Profile Image

Professor Rodney Scott

Professor

School of Biomedical Sciences and Pharmacy (Medical Genetics)

Mining your genes

A successful collaboration between two internationally renowned researchers is using medical science and computer analysis to unlock the mysteries of cancer and other diseases.

Professors Rodney Scott and Pablo Moscato posing for the camera 

Geneticist Professor Rodney Scott and computer scientist Professor Pablo Moscato come from disparate academic backgrounds, but they share a common purpose. The leading researchers are blending their respective knowledge with the aim of making personalised medicine a reality.

Scott and Moscato are co-directors of the University of Newcastle's forward-thinking Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine. As one of only two research sites  in Australia that directly link bioinformatics with clinical research practice, it is at the forefront of the emerging field of developing patient-tailored treatments based on genetic analysis.

Both researchers bring considerable expertise to the collaboration. Scott has been working in the field of hereditary diseases for 20 years, and has attracted global recognition for his genetic research, particularly in the areas of breast and bowel cancers.

Moscato began his influential work in computer science in the late 1980s as a member of the Caltech parallel computing group – supercomputing pioneers based at the California Institute of Technology. While there, he developed in collaboration with another researcher a computer optimisation strategy known as a memetic algorithm, now widely used in computation-based applications in many areas of Science and Technology.

What has drawn them together is the need for more efficient ways of processing and appropriately interpret the mass of genetic research data being collected by medical researchers. Working alongside this is the tantalising prospect of being able to use computer profiling technology to customise treatments for individual patients.

"Since I have been working in genetics there has been an explosion of knowledge and huge advances in the technology that can be used to identify risk factors associated with disease," Scott says.

"Technology allows us to acquire a huge amount of data but a bottleneck is created by the analysis, because there is physically so much data to sift through.

"Bioinformatics is providing a mechanism whereby we can reduce the complexity of research data, manage it and interpret it."

Scott and Moscato first collaborated in 2006 when Moscato applied his statistical and computational skills to analysing data associated with the rare genetic disorder xeroderma pigmentosum, a trigger for childhood skin cancer. Scott was impressed with the results and the University, recognising the potential for this valuable interdisciplinary research, approved the investigators' request to set up the centre.Professor Rodney Scott speaks to a colleague in the laboratory

University medical and bioinformatics researchers have since successfully worked together on the interpretation of genetic data relating not only to cancer but a range of conditions including stroke, multiple sclerosis, macular degeneration, Alzheimer's Disease and lung disease.

"When I came to the University in 2002 there was a lot of strength on the clinical side of medical research but not a lot of work underway in bioinformatics," Moscato says.

"I established the Newcastle Bioinformatics Initiative with the support of the university in 2002. On my lead, and with ARC support, Newcastle has been the only NSW node of the ARC Centre of Excellence in Bioinformatics since 2003.

"Now, in some areas, particularly in supercomputing based approaches to interrogate these datasets, we are clearly leading this research field in Australia."

Moscato is pushing the boundaries of molecular interrogation techniques, looking for ways to provide more sophisticated information, including a forensic analysis of data that seeks to explain, rather than dismiss, even minor statistical anomalies. He has developed a method based on Information Theory to track the progession of cancer and Alzheimer's Disease in the brain.

"It is a unifying theory, the Entropic Hallmark," he says.

"A medical researcher can come to us with data that contains a number of variables and our methods are able to highlight the possibilities," he says. "We seek to open new working hypotheses, rather than just give a straightforward reading of the data."

For example, detailed analysis of data over a number of years by his team has led to the identification of what they believe to be the 'genetic signature' of two new subtypes of breast cancer.  If validated, the research could lead to new approaches to treatment.

The "final quest", Moscato says, is personalising medicine.

"With cancer, for instance, we are moving away from the approach that there is a silver bullet cure," he says.

"There are thousands of drugs that can be used to treat cancers. That presents a huge number of possible combinations for treatment. Only with sophisticated computer analysis can you screen all of the combinations according to a patient's specific gene characteristics."

Scott picks up the theme: "What we are aiming to achieve is user-friendly programs that can be applied at the clinical level; programs that will efficiently and effectively analyse the data and deliver meaningful information describing a person's risk factors and suggesting optimal treatment."

Professor Rodney Scott and Professor Pablo Moscato research in collaboration with the Hunter Medical Research Institute's (HMRI) Information Based Medicine Program. HMRI is a partnership between the University, Hunter New England Local Health District and the community.

Visit the Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine website

Visit the HMRI website

Professor Rodney Scott

Mining your genes

A successful collaboration between Professor Rodney Scott and Pablo Moscato is using medical science and computer analysis to unlock the mysteries of cancer and other diseases.

Read more

Career Summary

Biography

Inherited forms of cancer have been my main interest for around 20 years. The research I have been involved first focused on the identification of genes associated with with inherited forms of colorectal cancer and breast cancer.

The research area proved to be extremely successful as it really set the scene for our current understanding of the genetic basis of malignancy. Since the identification of genetic susceptibilities my research interests have focused on better defining these inherited entities such that more appropriate intervention strategies can be developed. Initially, much emphasis was placed on recognising genotype/phenotype correlations with disease and as such the research I have undertaken has done much to define such relationships.

More recently, the role of modifier genes in disease penetrance has been a major thematic area and data forthcoming from these studies indicates that there are additional disease susceptibilities that are important in assessing individual risk on a genetic background of high risk. This research is now beginning to be translated to the general population as it represents the first tentative move towards determining cancer risk in the general population. With increasing emphasis on disease prevention it is to be expected that this research will continue to flourish.

My research career took off in Switzerland where I consolidated a centre dedicated to the study of inherited predispositions to cancer. During this period of my research career I was heavily involved in the identification of genetic predispositions to breast cancer and bowel cancer and through my activities supervised 4 PhD students who have since had excellent careers in medical research. The research that I am focused on is consistent with two of Australia's national priorities, healthy aging and a healthy start to life.

Research Expertise
Expertise in the genetic basis of disease especially in relation to the development of malignancy.

Teaching Expertise
Expertise in the teaching of medical genetics.

Administrative Expertise
I have been on numerous State and National committees that are involved in ensuring the delivery of genetic services to the public. I have also served on ethics committees and a variety of other administrative committees.

Collaborations
The genetics of bowel cancer, Genetic variation and its relationship to disease, The genetics of breast cancer.


Qualifications

  • Privat Dozent - German equivalent to DSc, University of Basel
  • Bachelor of Science (Honours), University of Western Australia
  • PhD, University of Western Australia

Keywords

  • Cancer Genetics
  • Colorectal cancer
  • DNA Repair
  • DNA repair
  • Developmental
  • Gene environment interaction
  • Genetics
  • Medical
  • Molecular
  • breast cancer
  • evolution
  • family studies
  • genetic epidemiology
  • homeostasis
  • human
  • modifier genes

Languages

  • German (Fluent)

Fields of Research

CodeDescriptionPercentage
060499Genetics not elsewhere classified40
110399Clinical Sciences not elsewhere classified20
111299Oncology and Carcinogenesis not elsewhere classified40

Professional Experience

UON Appointment

DatesTitleOrganisation / Department
5/06/2015 - 31/08/2015ProfessorUniversity of Newcastle
School of Biomedical Sciences and Pharmacy
Australia
1/11/2013 - 30/11/2013ProfessorUniversity of Newcastle
School of Medicine and Public Health
Australia

Academic appointment

DatesTitleOrganisation / Department
1/06/2005 - Member gene technology technical advisory committeeGene Technology Regulator, Federal Government
Australia
1/06/2005 - Scientific AdvisorCancer Institute NSW
1/01/2003 - Chair of the Board of Censors for Molecular GeneticsHuman Genetics Society of Australasia (HGSA)
Australia
1/01/2002 - Founding Member International Hereditary Cancer Center
Poland
1/01/2002 - 1/12/2003Member of the Working Group on Human Gene PatentsAustralian Health Ministers' Advisory Council (AHMAC)
Australia
1/04/2000 - Visiting Professor of Cancer GeneticsPomeranian Academy of Medicine
Department of Pathology and Genetics
Poland
1/01/1990 - 1/07/1997Research Group LeaderUniversity Clinics Basel
Department of Research and Teaching
Switzerland

Membership

DatesTitleOrganisation / Department
Member - Royal College of Pathologists of AustralasiaRoyal College of Pathologists of Australasia
Member of the Management CommitteeRamaciotti Centre for Gene Function Analysis
Australia
Secretary - NSWOG (Familial Cancer) Cancer Institute of NSWNSWOG (Familial Cancer) Cancer Institute of NSW
Australia
Member of the DNA Working PartyNSW Department of Health
Editor-in-ChiefHereditary Cancer in Clinical Practice
Australia
Member - International Network for Cancer Treatment and Research (INCTR)International Network for Cancer Treatment and Research (INCTR)
Australia
Member of the Genetic Services Advisory Committee NSW Department of Health
Examiner - Royal College of Pathologists of AustralasiaRoyal College of Pathologists of Australasia

Professional appointment

DatesTitleOrganisation / Department
1/08/1997 - Director of GeneticsHunter Area Pathology Service
Health
Australia

Awards

Recipient

YearAward
2002Commentary on newly identified genes in breast cancer
The Lancet (Journal)

Research Award

YearAward
2009Researcher of the Year
Hunter Medical Research Institute (HMRI)
2004Research Excellence in Cancer Research
Cancer Council NSW
1994Susanne Huggenberger-Bishoff Stiftung Prize for Cancer Genetics
Huggenberger-Bischoff Stiftung zur Krebsforschung (Huggenberger-Bischoff Foundation for Cancer Research)

Invitations

External Examiner

YearTitle / Rationale
2006Polymorphism analysis in breast cancer
Organisation: Georgian National Science Foundation
2006Histology of tumours derived from early onset cancer cases
Organisation: Georgian National Science Foundation

External Reviewer - Programs

YearTitle / Rationale
2000Genetic studies on colorectal cancer
Organisation: Canadian Medical Research Council

Participant

YearTitle / Rationale
2007The role of DNA repair genes in cancer
Organisation: Regional Conference on Molecular Medicine From Molecular Mechanisms to Clinical Practice
2007Molecular epidemiology of colorectal cancer
Organisation: Regional Conference on Molecular Medicine From Molecular Mechanisms to Clinical Practice
2007The Genetic basis of early familial colorectal cancer
Organisation: Australasian Association of Clinical Biochemists
2006Future considerations for genetic testing
Organisation: IMPACT and AIDIT meeting
2004Translation of medical research into clinical practice or From Bench to Bedside
Organisation: The Hunter Medical Research Institute Inaugural Cancer Conference
2003Molecular Genetics: What is it being used for and where is it taking us
Organisation: . Australian Institute of Medical Science
2002European inaugural conference on tissue banking 'Cogene'.
Organisation: European Union
2001Attenuated Familial Adenomatous Polyposis.
Organisation: UICC Familial Cancer Project and International Oncology Conference, Beijing
1996BRCA1 mutations and early onset breast cancer
Organisation: 3rd European Cancer Center (EUCC) Symposium. Kaiser Augst
1995Identification of persons eligible for gene therapy: Limitations and expectations
Organisation: 5th. Basler Radio-Oncology Conference, Basel
1993Hereditary conditions in which a loss of heterozygosity may be important
Organisation: 23rd. Annual Meeting of the European Environmental Mutagen Society, Barcelona. September 1993.
Edit

Publications

For publications that are currently unpublished or in-press, details are shown in italics.


Chapter (5 outputs)

YearCitationAltmetricsLink
2015Riveros C, Vimieiro R, Holliday EG, Oldmeadow C, Wang JJ, Mitchell P, et al., 'Identification of genome-wide snp¿snp and snp¿clinical boolean interactions in age-related macular degeneration', , Humana Press Inc. (2015)

We propose here a methodology to uncover modularities in the network of SNP¿SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP interactions across the whole genome. By constructing a weighted graph of the most relevant interactions and via a combinatorial optimization approach, we fnd the most highly interconnected SNPs. We show that the method can be easily extended to fnd SNP/environment interactions. Using a modestly sized GWAS dataset of age-related macular degeneration (AMD), we identify a group of only 19 SNPs, which include those in previously reported regions associated to AMD. We also uncover a larger set of loci pointing to a matrix of key processes and functions that are affected. The proposed integrative methodology extends and overlaps traditional statistical analysis in a natural way. Combinatorial optimization techniques allow us to fnd the kernel of the most central interactions, complementing current methods of GWAS analysis and also enhancing the search for gene¿environment interaction.

DOI10.1007/978-1-4939-2155-3_12
Co-authorsChristopher Oldmeadow, John Attia, Pablo Moscato, Liz Holliday
2012Scott RJ, Reeves S, Talseth-Palmer B, 'The Role of Modifier Genes in Lynch Syndrome', Colorectal Cancer Biology, InTech, Croatia 37-58 (2012)
2012Scott R, Reeves SG, Talseth-Palmer B, 'The role of modifier genes in Lynch Syndrome', Colorectal Cancer Biology From Genes To Tumor, InTech, Slovenia 37-58 (2012) [B1]
DOI10.5772/1163
Co-authorsBente Talseth-Palmer
2009Scott R, Lubinski J, 'Genetic epidemiology studies in hereditary non-polyposis colorectal cancer', Cancer Epidemiology, Humana Press, New York 89-102 (2009) [B1]
DOI10.1007/978-1-60327-492-0_4
CitationsScopus - 4
2008Mendes ADS, Scott R, Moscato PA, 'Microarrays - Identifying molecular portraits in prostrate tumors with different gleason patterns', Clinical Bioinformatics, Humana Press, New York 131-151 (2008) [B1]
DOI10.1007/978-1-60327-148-6
CitationsScopus - 12
Co-authorsPablo Moscato
Show 2 more chapters

Journal article (353 outputs)

YearCitationAltmetricsLink
2015Greenop KR, Miller M, Bailey HD, Scott RJ, Attia J, Bower C, et al., 'Paternal dietary folate, B6 and B12 intake, and the risk of childhood brain tumors', Nutrition and Cancer, 67 224-230 (2015)

It is biologically plausible that a paternal preconception diet low in nutrients related to DNA integrity could affect sperm DNA and subsequently risk of cancer in the offspring. The aim of this analysis was to investigate whether paternal preconception dietary folate, B6, or B12 intake was associated with the risk of childhood brain tumors (CBT) in an Australian case-control study. Cases <15 years of age were recruited from 10 Australian pediatric oncology centers between 2005 and 2010, and controls from random-digit dialing, frequency-matched to cases on age, sex, and state of residence. Paternal dietary information was obtained by food-frequency questionnaires. Nutrient values were energy adjusted and divided into tertiles for analysis by unconditional logistic regression. In fathers with relevant data (237 cases and 629 controls), no association with dietary folate and B6 and risk of CBT was seen; high B12 intake was associated with an increased risk of CBT (odds ratio highest vs. lowest tertile: 1.74, 95% confidence interval: 1.14, 2.66) without an increasing trend. These results do not support the hypothesis that paternal dietary folate intake influences the risk of CBT. The increased OR observed between dietary B12 intake and risk of CBT is without any certain explanation.

DOI10.1080/01635581.2015.990571
Co-authorsJohn Attia
2015Greenop KR, Bailey HD, Miller M, Scott RJ, Attia J, Ashton LJ, et al., 'Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors', Nutrition and Cancer, 67 431-441 (2015)

Acute lymphoblastic leukemia (ALL) and childhood brain tumors (CBT) are 2 of the most common forms of childhood cancer, but little is known of their etiology. In 2 nationwide case-control studies we investigated whether breastfeeding, age of food introduction, or early diet are associated with the risk of these cancers. Cases aged 0-14 years were identified from Australian pediatric oncology units between 2003 and 2007 (ALL) and 2005 and 2010 (CBT) and population-based controls through nationwide random-digit dialing. Mothers completed questionnaires giving details of infant feeding up to the age of 2 yr. Data from 322 ALL cases, 679 ALL controls, 299 CBT cases, and 733 CBT controls were analysed using unconditional logistic regression. Breastfeeding was associated with a reduced risk of ALL [odds ratio (OR) = 0.52, 95% confidence interval (CI): 0.32, 0.84), regardless of duration. Introduction of artificial formula within 14 days of birth was positively associated with ALL (OR = 1.57, 95% CI: 1.03, 2.37), as was exclusive formula feeding to 6 mo (OR = 1.81, 95% CI: 1.07, 3.05). No associations were seen between breastfeeding or formula use and risk of CBT. Our results suggest that breastfeeding and delayed introduction of artificial formula may reduce the risk of ALL but not CBT.

DOI10.1080/01635581.2015.998839
CitationsScopus - 1Web of Science - 1
Co-authorsJohn Attia
2015Wong-Brown MW, Meldrum CJ, Carpenter JE, Clarke CL, Narod SA, Jakubowska A, et al., 'Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer', Breast Cancer Research and Treatment, 150 71-80 (2015)

Triple-negative breast cancers¿(TNBC) lack expression of oestrogen, progesterone and HER2 receptors. The gene expression profiles of TNBCs are similar to those of breast tumours in women with BRCA1 mutations. Reports to date indicate that up to 20¿% of TNBC patients harbour germline BRCA mutations; however, the prevalence of BRCA mutations in TNBC patients varies widely between countries and from study to study. We studied 774 women with triple-negative breast cancer, diagnosed on average at age 58.0¿years. Samples of genomic DNA were provided by the Australian Breast Cancer Tissue Bank (ABCTB) (439 patients) and by the Department of Genetics and Pathology of the Pomeranian Medical University (335 patients). The entire coding regions and the exon¿intron boundaries of BRCA1 and BRCA2 were amplified and sequenced by next-generation sequencing. We identified a BRCA1 or BRCA2 mutation in 74 of 774 (9.6¿%) triple-negative patients. The mutation prevalence was 9.3¿% in Australia and was 9.9¿% in Poland. In both countries, the mean age of diagnoses of BRCA1 mutation carriers was significantly lower than that of non-carriers, while the age of onset of BRCA2 mutation carriers was similar to that of non-carriers. In the Australian cohort, 59¿% of the mutation-positive patients did not have a family history of breast or ovarian cancer, and would not have qualified for genetic testing. The triple-negative phenotype should be added as a criterion to genetic screening guidelines.

DOI10.1007/s10549-015-3293-7
Co-authorsMichelle Wong-Brown
2015Sapkota Y, Low S-K, Attia J, Gordon SD, Henders AK, Holliday EG, et al., 'Association between endometriosis and the interleukin 1A (ILIA) locus', HUMAN REPRODUCTION, 30 239-248 (2015)
DOI10.1093/humrep/deu267Author URL
CitationsScopus - 2Web of Science - 2
Co-authorsLiz Holliday, John Attia
2015Paszkowska-Szczur K, Scott RJ, Gorski B, Cybulski C, Kurzawski G, Dymerska D, et al., 'Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population', MOLECULAR BIOLOGY REPORTS, 42 755-764 (2015)
DOI10.1007/s11033-014-3824-zAuthor URL
2015Paszkowska-Szczur K, Scott RJ, Górski B, Cybulski C, Kurzawski G, Dymerska D, et al., 'Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population', Molecular Biology Reports, 42 755-764 (2015)

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. Genetic polymorphisms in XP genes may be associated with a change in DNA repair capacity, which could be associated with colorectal cancer development. We assessed the association between 94 single nucleotide polymorphisms (SNPs) within seven XP genes (XPA¿XPG) and the colorectal cancer risk in the Polish population. We genotyped 758 unselected patients with colorectal cancer and 1,841 healthy adults. We found that a significantly decreased risk of colorectal cancer was associated with XPC polymorphism rs2228000_CT genotype (OR 0.59; p¿<¿0.0001) and the rs2228000_TT genotype (OR 0.29; p¿<¿0.0001) compared to the reference genotype (CC). And an increased disease risk was associated with the XPD SNP, rs1799793_AG genotype (OR 1.44, p¿=¿0.018) and rs1799793_AA genotype (OR 3.31, p¿<¿0.0001) compared to the reference genotype. Haplotype analysis within XPC, XPD and XPG revealed haplotypes associated with an altered colorectal cancer risk. Stratified analysis by gender showed differences between the association of three SNPs: XPC rs2228000, XPD rs1799793 and XPD rs238406 in females and males. Association analysis between age of disease onset and polymorphisms in XPD (rs1799793) and XPC (rs2228000) revealed differences in the prevalence of these variants in patients under and over 50¿years of age. Our results confirmed that polymorphisms in XPC and XPD may be associated with the risk of colorectal cancer.

DOI10.1007/s11033-014-3824-z
2015Carvajal-Carmona LG, O Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, et al., 'Candidate locus analysis of the TERT¿CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk', Human Genetics, 134 231-245 (2015)

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT¿CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P¿=¿4.9¿×¿10-6 to P¿=¿7.7¿×¿10-5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERTP¿=¿1.5¿×¿10-18, CLPTM1LP¿=¿1.5¿×¿10-19). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility.

DOI10.1007/s00439-014-1515-4
2015Chan JPL, Thalamuthu A, Oldmeadow C, Armstrong NJ, Holliday EG, McEvoy M, et al., 'Genetics of hand grip strength in mid to late life', Age, 37 1-10 (2015)

Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been consistently identified. We aimed to identify single nucleotide polymorphisms (SNPs) associated with GS in middle-aged to older adults using a genome-wide association study (GWAS). GS was measured using handheld dynamometry in community-dwelling men and women aged 55¿85 from the Hunter Community Study (HCS, N = 2088) and the Sydney Memory and Ageing Study (Sydney MAS, N = 541). Genotyping was undertaken using Affymetrix microarrays with imputation to HapMap2. Analyses were performed using linear regression. No genome-wide significant results were observed in HCS nor were any of the top signals replicated in Sydney MAS. Gene-based analyses in HCS identified two significant genes (ZNF295, C2CD2), but these results were not replicated in Sydney MAS. One out of eight SNPs previously associated with GS, rs550942, located near the CNTF gene, was significantly associated with GS (p = 0.005) in the HCS cohort only. Study differences may explain the lack of consistent results between the studies, including the smaller sample size of the Sydney MAS cohort. Our modest sample size also had limited power to identify variants of small effect. Our results suggest that similar to various other complex traits, many genetic variants of small effect size may influence GS. Future GWAS using larger samples and consistent measures may prove more fruitful at identifying genetic contributors for GS in middle-aged to older adults.

DOI10.1007/s11357-015-9745-5
Co-authorsChristopher Oldmeadow, Liz Holliday, John Attia, Roseanne Peel
2015Greenop KR, Miller M, Bailey HD, Scott RJ, Attia J, Bower C, et al., 'Paternal Dietary Folate, B6 and B12 Intake, and the Risk of Childhood Brain Tumors', Nutrition and Cancer, (2015)

It is biologically plausible that a paternal preconception diet low in nutrients related to DNA integrity could affect sperm DNA and subsequently risk of cancer in the offspring. The aim of this analysis was to investigate whether paternal preconception dietary folate, B6, or B12 intake was associated with the risk of childhood brain tumors (CBT) in an Australian case-control study. Cases <15¿years of age were recruited from 10 Australian pediatric oncology centers between 2005 and 2010, and controls from random-digit dialing, frequency-matched to cases on age, sex, and state of residence. Paternal dietary information was obtained by food-frequency questionnaires. Nutrient values were energy adjusted and divided into tertiles for analysis by unconditional logistic regression. In fathers with relevant data (237 cases and 629 controls), no association with dietary folate and B6 and risk of CBT was seen; high B12 intake was associated with an increased risk of CBT (odds ratio highest vs. lowest tertile: 1.74, 95% confidence interval: 1.14, 2.66) without an increasing trend. These results do not support the hypothesis that paternal dietary folate intake influences the risk of CBT. The increased OR observed between dietary B12 intake and risk of CBT is without any certain explanation.

DOI10.1080/01635581.2015.990571
2015Milne E, Greenop KR, Scott RJ, Haber M, Norris MD, Attia J, et al., 'Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukemia', Cancer Epidemiology Biomarkers and Prevention, 24 48-56 (2015)

Background: Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukemia (ALL). We investigated associations between ALL risk and folate pathway gene polymorphisms, and their modification by maternal folic acid supplements, in a population-based case-control study (2003-2007). Methods: All Australian pediatric oncology centers provided cases; controls were recruited by national random digit dialing. Data from 392 cases and 535 controls were included. Seven folate pathway gene polymorphisms (MTHFR 677C>T, MTHFR 1298A>C, MTRR 66A>G, MTR 2756 A>G, MTR 5049 C>A, CBS 844 Ins68, and CBS 2199 T>C) were genotyped in children and their parents. Information on prepregnancy maternal folic acid supplement use was collected. ORs were estimated with unconditional logistic regression adjusted for frequency-matched variables and potential confounders. Case-parent trios were also analyzed. Results: There was some evidence of a reduced risk of ALL among children who had, or whose father had, the MTRR 66GG genotype: ORs 0.60 [95% confidence interval (CI) 0.39-0.91] and 0.64 (95% CI, 0.40-1.03), respectively. The ORs for paternal MTHFR 677CT and TT genotypes were 1.41 (95% CI, 1.02-1.93) and 1.81 (95% CI, 1.06-3.07). ORs varied little by maternal folic acid supplementation. Conclusions: Some folate pathway gene polymorphisms in the child or a parent may influence ALL risk. While biologically plausible, underlying mechanisms for these associations need further elucidation. Impact: Folate pathway polymorphisms may be related to risk of childhood ALL, but larger studies are needed for conclusive results.

DOI10.1158/1055-9965.EPI-14-0680
CitationsScopus - 1
Co-authorsJohn Attia
2015Hancock DB, Levy JL, Gaddis NC, Glasheen C, Saccone NL, Page GP, et al., 'Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1.', Biol Psychiatry, (2015)
DOI10.1016/j.biopsych.2015.01.003Author URL
Co-authorsLiz Holliday, John Attia
2015Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, et al., 'Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk', HUMAN MOLECULAR GENETICS, 24 1478-1492 (2015) [C1]
DOI10.1093/hmg/ddu552Author URL
Co-authorsJohn Attia, Liz Holliday, Katie Ashton
2015Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, et al., 'Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).', Mol Psychiatry, 20 183-192 (2015)
DOI10.1038/mp.2014.188Author URL
CitationsWeb of Science - 1
Co-authorsPeter Schofield, John Attia, Christopher Oldmeadow, Liz Holliday
2015Stirzaker C, Zotenko E, Song JZ, Qu W, Nair SS, Locke WJ, et al., 'Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value.', Nat Commun, 6 5899 (2015)
DOI10.1038/ncomms6899Author URL
Co-authorsJohn Forbes, Kelly Kiejda
2015Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, et al., 'Genetic overlap between diagnostic subtypes of ischemic stroke.', Stroke, 46 615-619 (2015)
DOI10.1161/STROKEAHA.114.007930Author URL
Co-authorsLisa Lincz, Jane Maguire, Christopher Oldmeadow, Liz Holliday, Chris Levi, John Attia
2015Greenop KR, Hinwood AL, Fritschi L, Scott RJ, Attia J, Ashton LJ, et al., 'Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control study', Pediatric Blood and Cancer, 62 229-234 (2015)

The aetiology of childhood brain tumours (CBT) is largely unknown. Damage to germ cells after parental exposure to airborne carcinogens, such as volatile organic compounds and polycyclic aromatic hydrocarbons is one plausible pathway. This analysis aimed to investigate whether parental refuelling of vehicles or the use of domestic wood heaters in key time periods relating to the child's birth was associated with an increased risk of CBT. Procedure: Cases <15 years of age were recruited through 10 paediatric oncology centres around Australia; controls were recruited through nationwide random-digit dialling, frequency matched to cases on age, sex and State of residence. Exposure to refuelling and wood heaters was ascertained through questionnaires from both parents. Odds ratios (ORs) and confidence intervals (CIs) were estimated using unconditional logistic regression, adjusting for relevant covariates. Results: Data were available for 306 case and 950 control families. Paternal refuelling =4times/month was associated with an increased risk of CBT (OR 1.59, 95% CI: 1.11, 2.29), and a dose-dependent trend was observed (P=0.004). No association was seen for maternal refuelling. Use of closed, but not open, wood heaters before (OR 1.51, 95% CI: 1.05, 2.15) and after (OR 1.44, 95% CI: 1.03, 2.01) the child's birth was associated with increased risk of CBT, but dose-response relationships were weak or absent. Conclusions: Paternal refuelling of vehicles =4times/month and the use of closed wood heaters before the child's birth may increase the risk of CBT. Replication in larger studies is needed.

DOI10.1002/pbc.25268
Co-authorsJohn Attia
2015Debniak T, Gromowski T, Scott RJ, Gronwald J, Huzarski T, Byrski T, et al., 'Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families', HEREDITARY CANCER IN CLINICAL PRACTICE, 13 (2015)
DOI10.1186/s13053-015-0025-2Author URL
2015Mavaddat N, Pharoah PDP, Michailidou K, Tyrer J, Brook MN, Bolla MK, et al., 'Prediction of breast cancer risk based on profiling with common genetic variants', Journal of the National Cancer Institute, 107 (2015)

Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

DOI10.1093/jnci/djv036
CitationsScopus - 2Web of Science - 1
2015Lubinski J, Scott RJ, Sijmons R, Bayliss K, 'Thank you to all our manuscript reviewers in 2014', Hereditary Cancer in Clinical Practice, 1-2 (2015)

The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2014. Without the participation of skilful reviewers, no academic journal could succeed, and we are grateful to the committed individuals who have given their time and expertise to the peer review of manuscripts for Hereditary Cancer in Clinical Practice. We look forward to your continued support in 2015.

DOI10.1186/s13053-015-0029-y
2015Pundavela J, Roselli S, Faulkner S, Attia J, Scott RJ, Thorne RF, et al., 'Nerve fibers infiltrate the tumor microenvironment and are associated with nerve growth factor production and lymph node invasion in breast cancer', Molecular Oncology, (2015)

Infiltration of the tumor microenvironment by nerve fibers is an understudied aspect of breast carcinogenesis. In this study, the presence of nerve fibers was investigated in a cohort of 369 primary breast cancers (ductal carcinomas in situ, invasive ductal and lobular carcinomas) by immunohistochemistry for the neuronal marker PGP9.5. Isolated nerve fibers (axons) were detected in 28% of invasive ductal carcinomas as compared to only 12% of invasive lobular carcinomas and 8% of ductal carcinomas in situ (p=0.0003). In invasive breast cancers, the presence of nerve fibers was observed in 15% of lymph node negative tumors and 28% of lymph node positive tumors (p=0.0031), indicating a relationship with the metastatic potential. In addition, there was an association between the presence of nerve fibers and the expression of nerve growth factor (NGF) in cancer cells (p=0.0001). Invitro, breast cancer cells were able to induce neurite outgrowth in PC12 cells, and this neurotrophic activity was partially inhibited by anti-NGF blocking antibodies. In conclusion, infiltration by nerve fibers is a feature of the tumor microenvironment that is associated with aggressiveness and involves NGF production by cancer cells. The potential participation of nerve fibers in breast cancer progression needs to be further considered.

DOI10.1016/j.molonc.2015.05.001
Co-authorsRick Thorne, Hubert Hondermarck, John Attia, Marjorie Walker, Phillip Jobling
2015Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott RJ, Hall ST, et al., 'Virus Infections and Sudden Death in Infancy: The Role of Interferon-¿.', Front Immunol, 6 107 (2015)
DOI10.3389/fimmu.2015.00107Author URL
Co-authorsMaree Gleeson, Sharron Hall
2015Blackwell C, Moscovis S, Hall S, Burns C, Scott RJ, 'Exploring the risk factors for sudden infant deaths and their role in inflammatory responses to infection', Frontiers in Immunology, 6 (2015)

The risk factors for sudden infant death syndrome (SIDS) parallel those associated with susceptibility to or severity of infectious diseases. There is no evidence that a single infectious agent is associated with SIDS; the common thread appears to be induction of inflammatory responses to infections. In this review, interactions between genetic and environmental risk factors for SIDS are assessed in relation to the hypothesis that many infant deaths result from dysregulation of inflammatory responses to "minor" infections. Risk factors are assessed in relation to three important stages of infection: (1) bacterial colonization (frequency or density); (2) induction of temperature-dependent toxins; (3) induction or control of inflammatory responses. In this article, we review the interactions among risk factors for SIDS for their effects on induction or control of inflammatory responses. The risk factors studied are genetic factors (sex, cytokine gene polymorphisms among ethnic groups at high or low risk of SIDS); developmental stage (changes in cortisol and testosterone levels associated with 2- to 4-month age range); environmental factors (virus infection, exposure to cigarette smoke). These interactions help to explain differences in the incidences of SIDS observed between ethnic groups prior to public health campaigns to reduce these infant deaths.

DOI10.3389/fimmu.2015.00044
2015Moscovis SM, Cox A, Hall ST, Burns CJ, Scott RJ, Blackwell CC, 'Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses.', Innate Immun, 21 523-530 (2015)
DOI10.1177/1753425914553645Author URL
Co-authorsSharron Hall
2014Oldmeadow C, Mossman D, Evans TJ, Holliday EG, Tooney PA, Cairns MJ, et al., 'Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.', J Psychiatr Res, 52 44-49 (2014) [C1]
DOI10.1016/j.jpsychires.2014.01.011Author URL
CitationsScopus - 1Web of Science - 1
Co-authorsLiz Holliday, Murray Cairns, Paul Tooney, Christopher Oldmeadow, John Attia
2014Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor C-C, Loomis SJ, et al., 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, 5 (2014) [C1]

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

DOI10.1038/ncomms5883
CitationsScopus - 8
Co-authorsLiz Holliday, John Attia
2014Evans TJ, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al., 'Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.', PLoS One, 9 e110255 (2014) [C1]
DOI10.1371/journal.pone.0110255Author URL
CitationsScopus - 1Web of Science - 1
Co-authorsNikola Bowden, John Attia, Liz Holliday, Bente Talseth-Palmer
2014Avery-Kiejda KA, Braye SG, Forbes JF, Scott RJ, 'The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer', BMC CANCER, 14 (2014) [C1]
DOI10.1186/1471-2407-14-253Author URL
CitationsScopus - 4Web of Science - 4
Co-authorsKelly Kiejda, John Forbes
2014Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, et al., 'Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia', Breast Cancer Research, 1-16 (2014) [C1]

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)). Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.

DOI10.1186/s13058-014-0474-y
2014Graves MC, Benton M, Lea RA, Boyle M, Tajouri L, Macartney-Coxson D, et al., 'Methylation differences at the HLA-DRB1 locus in CD4+ T-Cells are associated with multiple sclerosis', Multiple Sclerosis Journal, 20 1033-1041 (2014) [C1]

Background: Multiple sclerosis (MS) is thought to be caused by T-cell mediated autoimmune dysfunction. Risk ofdeveloping MS is influenced by environmental and genetic factors. Modifiable differences in DNA methylation arerecognized as epigenetic contributors to MS risk and may provide a valuable link between environmental exposure andinherited genetic systems.Objectives and methods: To identify methylation changes associated with MS, we performed a genome-wide DNAmethylation analysis of CD4+ T cells from 30 patients with relapsing-remitting MS and 28 healthy controls using Illumina450K methylation arrays.Results: A striking differential methylation signal was observed at chr. 6p21, with a peak signal at HLA-DRB1. Afterprioritisation, we identified a panel of 74 CpGs associated with MS in this cohort. Most notably we found evidence of amajor effect CpG island in DRB1 in MS cases (pFDR <3 x 10-3). In addition, we found 55 non-HLA CpGs that exhibiteddifferential methylation, many of which localise to genes previously linked to MS.Conclusions: Our findings provide the first evidence for association of DNA methylation at HLA-DRB1 in relation toMS risk. Further studies are now warranted to validate and understand how these findings are involved in MS pathology. © The Author(s) 2013.

DOI10.1177/1352458513516529
CitationsScopus - 4Web of Science - 1
2014Moscovis S, Hall S, Burns C, Scott R, Blackwell C, 'Development of an experimental model for assessing the effects of cigarette smoke and virus infections on inflammatory responses to bacterial antigens', Innate Immunity, 20 647-658 (2014) [C1]

Interactions among major risk factors associated with bacterial infections were assessed in a model system using surrogates for virus infection; IFN-g, and exposure to cigarette smoke; cigarette smoke extract (CSE), nicotine and cotinine. Cytokine responses elicited by LPS from THP-1 cells in the presence of these components, or combinations of components, were assessed by multiplex bead assay, i.e. IL-1ß, IL-6, IL-8, IL-10, TNF-a and IFN-¿. IFN-¿-priming significantly increased pro-inflammatory cytokines induced by LPS. CSE suppressed production of pro-inflammatory cytokines IL-1ß, TNF-a and IFN-¿, but enhanced production of IL-8. Nicotine and cotinine suppressed all cytokine responses. In combination, IFN-¿ masked the inhibitory effects of CSE. In relation to the objectives of the study, we concluded that (a) IFN¿ at biologically relevant concentrations significantly enhanced pro-inflammatory responses; (b) CSE, nicotine and cotinine dysregulated the inflammatory response and that the effects of CSE were different from those of the individual components, nicotine and cotinine; (c) when both IFN-¿ and CSE were present, IFN-¿ masked the effect of CSE. There is a need for clinical investigations on the increase in IL-8 responses in relation to exposure to cigarette smoke and increased pro-inflammatory responses in relation to recent viral infection. © 2013 The Author(s).

DOI10.1177/1753425913503893
CitationsScopus - 3Web of Science - 3
Co-authorsSharron Hall, Caroline Blackwell
2014Holliday EG, Attia J, Hancock S, Koloski N, McEvoy M, Peel R, et al., 'Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome', American Journal of Gastroenterology, 109 770-772 (2014) [C1]
DOI10.1038/ajg.2014.56
CitationsScopus - 2Web of Science - 1
Co-authorsLiz Holliday, Roseanne Peel, John Attia, Nicholas Talley
2014Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ, 'Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer', International Journal of Cancer, 134 301-305 (2014) [C1]

Triple-negative breast cancer (TNBC) is a tumour classification that is defined by oestrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 receptor negativity. TNBCs share a similar gene expression profile to BRCA-mutated tumours, have been shown to carry a high proportion of BRCA mutations and have a more adverse prognosis compared to other types of breast tumours. PALB2 has been shown to be a moderate-penetrance breast cancer susceptibility gene and is involved in the same DNA damage repair pathway as BRCA1 and BRCA2; this raises the possibility that germline PALB2 mutations may be involved in the pathogenesis of TNBCs. In our study, we sequenced the coding regions of PALB2 (including intron/exon boundaries) in genomic DNA from 347 patients diagnosed with TNBC to determine the prevalence of deleterious mutations in this population. Two novel truncating mutations (c.758dup and c.2390del) and one previously detected truncating mutation (c.3113+5G>C) were found. In addition, five variants predicted to be protein-affecting were also identified. Our study shows that the prevalence of PALB2 germline mutations in individuals with TNBC is ~1%, similar to the prevalence of PALB2 germline mutation of 1% in familial non-BRCA1/2 breast cancer cohorts. © 2013 UICC.

DOI10.1002/ijc.28361
CitationsScopus - 1
Co-authorsMichelle Wong-Brown, Nikola Bowden, Kelly Kiejda
2014McCarthy-Jones S, Green MJ, Scott RJ, Tooney PA, Cairns MJ, Wu JQ, et al., 'Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia', JOURNAL OF PSYCHIATRIC RESEARCH, 50 66-72 (2014) [C1]
DOI10.1016/j.jpsychires.2013.11.012Author URL
CitationsScopus - 2Web of Science - 2
Co-authorsChristopher Oldmeadow, Murray Cairns, Paul Tooney
2014Green MJ, Chia T-Y, Cairns MJ, Wu J, Tooney PA, Scott RJ, Carr VJ, 'Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia', Journal of Psychiatric Research, 49 43-50 (2014) [C1]

The interaction of genetic and environmental factors may affect the course and development of psychotic disorders. We examined whether the effects of childhood trauma on cognition and symptoms in schizophrenia were moderated by the Catechol-O-methyltransferase (COMT) Val158Met polymorphism, a common genetic variant known to affect cognition and prefrontal dopamine levels. Participants were 429 schizophrenia/schizoaffective cases from the Australian Schizophrenia Research Bank (ASRB). Cognitive performance was assessed using the Repeatable Battery for Assessment of Neuropsychological Status (RBANS), Controlled Oral Word Association Test (COWAT), Letter Number Sequencing (LNS) test, and the Wechsler Test of Adult Reading (WTAR). Hierarchical regression was used to test the main effects and additive interaction effects of genotype and childhood trauma in the domains of physical abuse, emotional abuse, and emotional neglect, on cognition and symptom profiles of clinical cases. Consistent with previous findings, COMT Val homozygotes performed worse on cognitive measures in the absence of childhood adversity. In addition, a significant interaction between COMT genotype and physical abuse was associated with better executive function in Val homozygotes, relative to those of the same genotype with no history of abuse. Finally, the severity of positive symptoms was greater in Met carriers who had experienced physical abuse, and the severity of negative symptoms in Met carriers was greater in the presence of emotional neglect. These results suggest that the possible epigenetic modulation of the expression of the COMT Val158Met polymorphism and consequent effects on cognition and symptoms in schizophrenia, with worse outcomes associated with adverse childhood experiences in Met carriers. © 2013 Elsevier Ltd.

DOI10.1016/j.jpsychires.2013.10.018
CitationsScopus - 3Web of Science - 1
Co-authorsPaul Tooney, Murray Cairns
2014Green MJ, Chia T-Y, Carr VJ, Cairns MJ, Tooney PA, Scott RJ, Wu J, 'Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia', Journal of Psychiatric Research, 49 43-50 (2014)
DOI10.1016/j.jpsychires.2013.10.018
Co-authorsPaul Tooney, Murray Cairns
2014Ripke S, Neale BM, Corvin A, Walters JTR, Farh K-H, Holmans PA, et al., 'Biological insights from 108 schizophrenia-associated genetic loci', Nature, 511 421-427 (2014) [C1]

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia. © 2014 Macmillan Publishers Limited. All rights reserved.

DOI10.1038/nature13595
CitationsScopus - 184Web of Science - 138
Co-authorsUlrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2014Pluschke A, Jaaback K, Scott RJ, Lombard J, Yin H, 'Epithelioid trophoblastic tumour simulating a high grade carcinoma', PATHOLOGY, 46 248-250 (2014) [C3]
DOI10.1097/PAT.0000000000000088Author URL
2014Holliday EG, Traylor M, Malik R, Bevan S, Maguire J, Koblar SA, et al., 'Polygenic Overlap Between Kidney Function and Large Artery Atherosclerotic Stroke', STROKE, 45 3508-+ (2014) [C1]
DOI10.1161/STROKEAHA.114.006609Author URL
Co-authorsJohn Attia, Christopher Oldmeadow, Liz Holliday, Chris Levi, Jane Maguire
2014Greenop KR, de Klerk NH, Bower C, Milne E, Miller M, Scott RJ, et al., 'Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and Risk of Childhood Brain Tumors', Nutrition and Cancer, (2014) [C1]

Childhood brain tumors (CBT) are the second most common childhood cancers, yet their etiology is largely unknown. We investigated whether maternal gestational intake of folate and vitamins B6 and B12 was associated with CBT risk in a nationwide case-control study conducted 2005-2010. Case children 0-14 years were recruited from all 10 Australian pediatric oncology centers. Control children were recruited by national random digit dialing, frequency matched to cases on age, sex, and state of residence. Dietary intake was ascertained using food frequency questionnaires and adjusted for total energy intake. Data from 293 case and 726 control mothers were analyzed using unconditional logistic regression. The odds ratio (OR) for the highest versus lowest tertile of folate intake was 0.70 [95% confidence interval (CI): 0.48, 1.02]. The ORs appeared lower in mothers who drank alcohol during pregnancy (OR = 0.45, 95% CI: 0.22, 0.93), mothers who took folic acid (OR = 0.67, 95% CI: 0.42, 1.06) or B6/B12 supplements (OR = 0.51, 95% CI: 0.25, 1.06) and in children younger than 5 years (OR = 0.50, 95% CI: 0.27, 0.93). These findings are consistent with folate's crucial role in maintenance of genomic integrity and DNA methylation. Dietary intake of B6 and B12 was not associated with risk of CBT. © 2014 Copyright © Taylor & Francis Group, LLC.

DOI10.1080/01635581.2014.916326
CitationsScopus - 4Web of Science - 4
Co-authorsJohn Attia
2014De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, Attia J, et al., 'Genome-wide association study of endometrial cancer in E2C2', HUMAN GENETICS, 133 211-224 (2014) [C1]
DOI10.1007/s00439-013-1369-1Author URL
CitationsScopus - 4Web of Science - 6
Co-authorsLiz Holliday, John Attia
2014Moir-Meyer GL, Pearson JF, Lose F, The ANECSG, Scott RJ, McEvoy M, et al., 'Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition', Human Genetics, (2014)

Endometrial cancer is the most common invasive gynaecological cancer in women, and relatively little is known about inherited risk factors for this disease. This is the first genome-wide study to explore the role of common and rare germline copy number variants (CNVs) in predisposition to endometrial cancer. CNVs were called from germline DNA of 1,209 endometrioid endometrial cancer cases and 528 cancer-unaffected female controls. Overall CNV load of deletions or DNA gains did not differ significantly between cases and controls (P > 0.05), but cases presented with an excess of rare germline deletions overlapping likely functional genomic regions including genes (P = 8 × 10-10), CpG islands (P = 1 × 10-7) and sno/miRNAs regions (P = 3 × 10-9). On average, at least one additional gene and two additional CpG islands were disrupted by rare deletions in cases compared to controls. The most pronounced difference was that over 30 sno/miRNAs were disrupted by rare deletions in cases for every single disruption event in controls. A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6 %) compared to one gene in 1/528 controls (0.2 %; P = 0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P = 0.03). There were 34 miRNA regions deleted in at least one case but not in controls, the most frequent of which encompassed hsa-mir-661 and hsa-mir-203. Our study implicates rare germline deletions of functional and regulatory regions as possible mechanisms conferring endometrial cancer risk, and has identified specific regulatory elements as candidates for further investigation.

DOI10.1007/s00439-014-1507-4
Co-authorsLiz Holliday, John Attia
2014Carvajal-Carmona LG, O Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, et al., 'Candidate locus analysis of the TERT¿CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk', Human Genetics, (2014)

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT¿CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P = 4.9 × 10-6 to P = 7.7 × 10-5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERTP = 1.5 × 10-18, CLPTM1LP = 1.5 × 10-19). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility.

DOI10.1007/s00439-014-1515-4
2014Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT study (vol 73, pg 16, 2013)', ANNALS OF NEUROLOGY, 75 166-167 (2014)
DOI10.1002/ana.24105Author URL
Co-authorsLiz Holliday, Chris Levi, John Attia
2014Mirecka A, Paszkowska-Szczur K, Scott RJ, Górski B, van de Wetering T, Wokolorczyk D, et al., 'Common variants of xeroderma pigmentosum genes and prostate cancer risk', Gene, 546 156-161 (2014) [C1]

The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA-. XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults. An increased risk of disease was associated with the XPD SNP, rs1799793 (Asp312Asn) AG genotype (OR. = 2.60; p. <. 0.001) and with the AA genotype (OR. = 531; p. <. 0.0001) compared to the control population. Haplotype analysis of XPD revealed one protective haplotype and four associated with an increased disease risk, which showed that the A allele (XPD rs1799793) appeared to drive the main effect on promoting prostate cancer risk. Polymorphism in XPD gene appears to be associated with the risk of prostate cancer. © 2014.

DOI10.1016/j.gene.2014.06.026
2014Greenop KR, Peters S, Fritschi L, Glass DC, Ashton LJ, Bailey HD, et al., 'Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors: results from an Australian case-control study', CANCER CAUSES & CONTROL, 25 283-291 (2014) [C1]
DOI10.1007/s10552-013-0330-xAuthor URL
CitationsScopus - 1Web of Science - 1
2014Greenop KR, Peters S, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Exposure to pesticides and the risk of childhood brain tumors (vol 24, pg 1269, 2013)', CANCER CAUSES & CONTROL, 25 1239-1240 (2014) [O1]
DOI10.1007/s10552-014-0418-yAuthor URL
Co-authorsJohn Attia
2014Greenop KR, Peters S, Fritschi L, Glass DC, Ashton LJ, Bailey HD, et al., 'Erratum to: Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors: results from an Australian case-control study', Cancer Causes & Control, (2014) [O1]
DOI10.1007/s10552-014-0419-x
2014Milne E, Greenop KR, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors', Cancer Causes and Control, 25 375-383 (2014)
DOI10.1007/s10552-014-0338-x
CitationsScopus - 1
Co-authorsJohn Attia
2014Milne E, Greenop KR, Fritschi L, Attia J, Bailey HD, Scott RJ, et al., 'Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors', Cancer Causes and Control, 25 375-383 (2014) [C1]

Purpose: Childhood brain tumors (CBT) are the second most common type of childhood cancer and the leading cause of childhood cancer mortality. Few causes of CBT are known, but parental, fetal, and early life exposures are likely to be important given the early age at diagnosis of many cases. We aimed to investigate whether parents' diagnostic radiological procedures before conception, in the mother during pregnancy or the child's procedures were associated with an increased risk of CBT. Methods: This population-based case-control study was conducted between 2005 and 2010. Cases were identified through all ten Australian pediatric oncology centers, and controls via nationwide random-digit dialing; frequency-matched to cases on age, sex and state of residence. Information on radiological exposures in the time periods of interest was obtained for 306 case and 950 control families through mailed questionnaires. Analysis used unconditional logistic regression, adjusting for matching variables and potential confounders. Results: We found no evidence of positive associations between risk of CBT overall and childhood or parental pre-pregnancy radiological procedures. Increased ORs for high-grade gliomas associated with childhood radiological procedures were based on small numbers and may be due to chance. Conclusions: Given the evidence for an increased risk of CBT in cohort studies of computed tomography (CT) in childhood, the lack of such an association in our study may be due to the reduced intensity of CTs after 2001. Future research to investigate the safety of fetal exposure to more intense procedures like CT scans is needed. © 2014 Springer International Publishing Switzerland.

DOI10.1007/s10552-014-0338-x
CitationsScopus - 1Web of Science - 1
Co-authorsJohn Attia
2014Moayyeri A, Hsu Y-H, Karasik D, Estrada K, Xiao S-M, Nielson C, et al., 'Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium', HUMAN MOLECULAR GENETICS, 23 3054-3068 (2014) [C1]
DOI10.1093/hmg/ddt675Author URL
CitationsScopus - 4Web of Science - 3
Co-authorsJohn Attia, Roseanne Peel, Christopher Oldmeadow, Liz Holliday
2014Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, et al., 'Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade', HUMAN MOLECULAR GENETICS, 23 6034-6046 (2014) [C1]
DOI10.1093/hmg/ddu300Author URL
2014Wan C, Latter JL, Amirshahi A, Symonds I, Finnie J, Bowden N, et al., 'Progesterone Activates Multiple Innate Immune Pathways in Chlamydia trachomatis-Infected Endocervical Cells', American Journal of Reproductive Immunology, 71 165-177 (2014)
DOI10.1111/aji.12168
CitationsScopus - 1
Co-authorsIan Symonds, Joanna Latter, Nikola Bowden
2014Wan C, Latter JL, Amirshahi A, Symonds I, Finnie J, Bowden N, et al., 'Progesterone Activates Multiple Innate Immune Pathways in Chlamydia trachomatis-Infected Endocervical Cells', American Journal of Reproductive Immunology, 71 165-177 (2014) [C1]

Problem: Susceptibility to Chlamydia trachomatis infection is increased by oral contraceptives and modulated by sex hormones. We therefore sought to determine the effects of female sex hormones on the innate immune response to C. trachomatis infection. Method of study: ECC-1 endometrial cells, pre-treated with oestradiol or progesterone, were infected with C. trachomatis and the host transcriptome analysed by Illumina Sentrix HumanRef-8 microarray. Primary endocervical epithelial cells, prepared at either the proliferative or secretory phase of the menstrual cycle, were infected with C. trachomatis and cytokine gene expression determined by quantitative RT-PCR analysis. Results: Chlamydia trachomatis yield from progesterone-primed ECC-1 cells was significantly reduced compared with oestradiol-treated cells. Genes upregulated in progesterone-treated and Chlamydia-infected cells only included multiple CC and CXC chemokines, IL-17C, IL-29, IL-32, TNF-a, DEFB4B, LCN2, S100A7-9, ITGAM, NOD2, JAK1, IL-6ST, type I and II interferon receptors, numerous interferon-stimulated genes and STAT6. CXCL10, CXCL11, CX3CL1 and IL-17C, which were also upregulated in infected secretory-stage primary cells, and there was a trend towards higher levels of immune mediators in infected secretory-phase compared with proliferative-phase cells. Conclusion: Progesterone treatment primes multiple innate immune pathways in hormone-responsive epithelial cells that could potentially increase resistance to chlamydial infection. © 2013 John Wiley & Sons Ltd.

DOI10.1111/aji.12168
CitationsScopus - 1Web of Science - 2
Co-authorsIan Symonds, Nikola Bowden, Joanna Latter
2014Loth DW, Artigas MS, Gharib SA, Wain LV, Franceschini N, Koch B, et al., 'Genome-wide association analysis identifies six new loci associated with forced vital capacity', NATURE GENETICS, 46 669-677 (2014) [C1]
DOI10.1038/ng.3011Author URL
CitationsScopus - 6Web of Science - 6
Co-authorsChristopher Oldmeadow, Liz Holliday, John Attia
2014Thompson BA, Spurdle AB, Plazzer J-P, Greenblatt MS, Akagi K, Al-Mulla F, et al., 'Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database', Nature Genetics, 46 107-115 (2014) [C1]

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.

DOI10.1038/ng.2854
CitationsScopus - 48Web of Science - 49
2014Cox MB, Bowden NA, Scott RJ, Lechner-Scott J, 'Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis', Multiple Sclerosis Journal, 20 489-491 (2014) [C1]

Matrix metalloproteinase 9 (MMP9) is involved in multiple sclerosis (MS) aetiology. Previously, we identified differential gene expression of plasminogen activation cascade genes in MS patients. Based on our gene expression results, we wanted to identify whether polymorphisms in the genes associated with the plasminogen pathway could predict MS risk. We genotyped 1153 trio families, 727 MS cases and 604 healthy controls for 17 polymorphisms in MMP9, plasminogen activator urokinase (PLAU), PLAU receptor (PLAUR) and serpin peptidase inhibitor/clade 2/member B2 (SERPINB2) genes. No associations were found between the 17 polymorphisms and MS. Also, gene expression levels were analysed according to genotype: no associations were observed. In conclusion despite the consistent evidence for the role of MMP9 and the plasminogen activation cascade in MS, we found no associations between genotype nor gene expression. This suggested there are other potentially modifiable factors influencing gene expression in MS. © The Author(s) 2013.

DOI10.1177/1352458513498127
CitationsScopus - 1Web of Science - 1
Co-authorsNikola Bowden
2014Smith CJA, Bensing S, Maltby VE, Zhang M, Scott RJ, Smith R, et al., 'Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis', Pituitary, 17 22-29 (2014)
DOI10.1007/s11102-013-0461-9
Co-authorsRoger Smith, Vicki E Maltby
2014Smith CJA, Bensing S, Maltby VE, Zhang M, Scott RJ, Smith R, et al., 'Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis', Pituitary, 17 22-29 (2014) [C1]

Lymphocytic hypophysitis is an organ-specific autoimmune disease characterised by destruction of pituitary hormone-secreting cells due to attack by self-reactive T lymphocytes. The spectrum of pituitary autoantibodies characterised by indirect immunofluorescence (IF) in these patients has not been substantially defined. The purpose of this study was to determine the spectrum of pituitary autoantibodies in 16 lymphocytic hypophysitis patients. Pituitary sections were prepared from guinea pigs and sera from 16 lymphocytic hypophysitis patients (13 biopsy proven and 3 suspected cases) and 13 healthy controls were evaluated for immunoreactivity to the pituitary tissue by immunofluorescence. A single patient was found to have high titre pituitary autoantibodies against guinea pig pituitary tissue. Immunoreactivity was directed against cells of the intermediate lobe. We present the case report of the patient who is a 24 year old woman that presented with headaches, polyuria and polydipsia. A uniformly enlarged pituitary mass was visible on MRI and a diagnosis of suspected lymphocytic hypophysitis was made. Based on our IF study, we postulate this patient has an autoimmune process directed towards the major cell type in the intermediate lobe, the melanotroph. Pre-adsorption with peptides representing adrenocorticotropic hormone, a-melanocyte stimulating hormone or ß-endorphin did not affect the IF signal suggesting our patient's pituitary autoantibodies may target some other product of Proopiomelanocortin (POMC) processing, such as corticotrophin-like intermediate peptide or ¿-lipoprotein. Alternatively, the autoantibodies may target a peptide completely unrelated to POMC processing. © 2013 Springer Science+Business Media New York.

DOI10.1007/s11102-013-0461-9
CitationsWeb of Science - 1
Co-authorsRoger Smith, Vicki E Maltby
2014Oldmeadow C, Holliday EG, McEvoy M, Scott R, Kwok JBJ, Mather K, et al., 'Concordance between direct and imputed APOE genotypes using 1000 genomes data', Journal of Alzheimer's Disease, 42 391-393 (2014) [C1]

There are a growing number of large cohorts of older persons with genome-wide genotyping data available, but APOE is not included in any of the common microarray platforms. We compared directly measured APOE genotypes with those imputed using microarray data and the '1000 Genomes' dataset in a sample of 320 Caucasians. We find 90% agreement for e2/e3/e4 genotypes and 93% agreement for predicting e4 status, yielding kappa values of 0.81 and 0.84, respectively. More stringent thresholds around allele number estimates can increase this agreement to 90-97% and kappas of 0.90-0.93.

DOI10.3233/JAD-140846
Co-authorsChristopher Oldmeadow, Liz Holliday, Peter Schofield, John Attia
2014Abdullah N, Attia J, Oldmeadow C, Scott RJ, Holliday EG, 'The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings', INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, (2014) [C1]
DOI10.1155/2014/593982Author URL
CitationsScopus - 2
Co-authorsJohn Attia, Christopher Oldmeadow, Liz Holliday
2014Zyluk A, Paszkowska-Szczur K, Gupta S, Scott RJ, Lubinski J, Debniak T, 'Dupuytren's disease and the risk of malignant neoplasms', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]

The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relatives. In the first stage of the study, we evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in DD families along with the observed and expected frequencies of malignancies. In the second stage of the study, we examined the distribution of 20 common mutations/polymorphisms in 12 known cancer susceptibility genes among DD patients and 508 matched healthy controls. No such study has been published to date. Results. No significant differences were noted between malignancies diagnosed among members of DD families and the general population. Molecular examination of 20 mutations/polymorphisms in 12 cancer susceptibility genes in Dupuytren's patients and controls showed a statistically significant association of one mutation with Dupuytren disease: D312M in XPD (OR = 1.75, p = 0.004). We observed a tendency toward changed frequencies of occurrence of central nervous system tumors, laryngeal cancer and non-melanoma skin cancers in DD families. The results of our study indicate a lack of a strong association between Dupuytren disease and familial cancer risk. © 2014 Zyluk et al.; licensee BioMed Central Ltd.

DOI10.1186/1897-4287-12-6
2014Masson AL, Talseth-Palmer BA, Evans T-J, Grice DM, Hannan GN, Scott RJ, 'Expanding the genetic basis of copy number variation in familial breast cancer', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]

Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that are unequivocally associated with breast cancer (BC) risk but there remain a significant proportion of families that cannot be accounted for by these genes. Copy number variants (CNVs) are a form of genetic variation yet to be fully explored for their contribution to fBC. CNVs exert their effects by either being associated with whole or partial gene deletions or duplications and by interrupting epigenetic patterning thereby contributing to disease development. CNV analysis can also be used to identify new genes and loci which may be associated with disease risk.Methods: The Affymetrix Cytogenetic Whole Genome 2.7 M (Cyto2.7 M) arrays were used to detect regions of genomic re-arrangement in a cohort of 129 fBC BRCA1/BRCA2 mutation negative patients with a young age of diagnosis (<50 years) compared to 40 unaffected healthy controls (>55 years of age).Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients.Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC. © 2014 Masson et al.; licensee BioMed Central Ltd.

DOI10.1186/1897-4287-12-15
Co-authorsBente Talseth-Palmer
2014Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, et al., 'Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia', Breast Cancer Research, 16 3419 (2014) [C1]
DOI10.1186/s13058-014-0474-y
2014Scott RJ, Fox SB, Desai J, Grieu F, Amanuel B, Garrett K, et al., 'KRAS mutation testing of metastatic colorectal cancer in Australia: Where are we at?', Asia-Pacific Journal of Clinical Oncology, 10 261-265 (2014) [C1]

Aim: To carry out a nationwide study of KRAS testing in metastatic colorectal cancer as reported by nine major molecular pathology service providers in Australia, including mutation frequencies and turnaround times that might impact on patient care. Methods: Participating laboratories contributed information on KRAS mutation frequencies, including the G13D mutation type, as well as turnaround times for tumor block retrieval and testing. Results: The KRAS mutation frequency observed by nine different test sites for a total of 3688 metastatic colorectal cancers ranged from 34.4% to 40.7%, with an average across all sites of 38.8%. The average frequency of the G13D mutation type among all cases was 8.0%. The median turnaround time was 17 days (range 0-191), with 20% of cases requiring more than 4 weeks for a KRAS test result. The major contributor to long turnaround times was the time taken to retrieve archived blocks of primary tumor, particularly from sources external to the test site. Conclusion: The frequency of KRAS mutations in metastatic colorectal cancer reported by the major Australian test sites is very similar to that reported by other large overseas studies. More widespread introduction of routine testing at the time of initial diagnosis should eliminate the long turnaround times currently being experienced in a significant proportion of cases. Future expansion of testing to include other KRAS and NRAS mutation hotspots may spur the introduction of next-generation sequencing platforms. © 2014 Wiley Publishing Asia Pty Ltd.

DOI10.1111/ajco.12201
2014Maguire J, Lindgren A, Bevan S, Fernandez-Cadenas I, Hankey G, Jern C, et al., 'GISCOME - Genetic Influences on Ischaemic Stroke Functional Outcome: A genome wide association study', INTERNATIONAL JOURNAL OF STROKE, 9 23-23 (2014)
Author URL
Co-authorsJane Maguire, Chris Levi
2014Moscovis SM, Hall ST, Burns CJ, Scott RJ, Blackwell CC, 'The male excess in sudden infant deaths', INNATE IMMUNITY, 20 24-29 (2014) [C1]
DOI10.1177/1753425913481071Author URL
CitationsScopus - 5Web of Science - 5
Co-authorsCaroline Blackwell, Sharron Hall
2014Rudnicka H, Masojc B, van de Wetering T, Debniak T, Cybulski C, Gronwald J, et al., 'First recurrent large genomic rearrangement in the BRCA1 gene found in Poland', Cancer Epidemiology, (2014) [C1]

Mutation in the BRCA1 gene increases the risk of the person developing breast and/or ovarian cancer. The prevalence and spectrum of large genomic rearrangements (LGRs) varies considerably among different tested populations. In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and exon 22) in Polish families at high risk of breast and ovarian cancer. In this study we analyzed a group of 550 unselected women with ovarian cancer for the three previously identified LGRs. We used a rapid, single-step and closed-tube method: high-resolution melting analysis (HRMA). In this group of unrelated patients diagnosed with ovarian cancer we found three cases with the same deletions of exon 22. This is the first recurrent large deletion in BRCA1 found in Poland. We conclude that screening for the exon 22 deletion in BRCA1 should be included in the Polish BRCA1 genetic testing panel and possibly extended into other Slavic populations. © 2014 Elsevier Ltd. All rights reserved.

DOI10.1016/j.canep.2014.05.010
2014Baines KJ, Simpson JL, Wood LG, Scott RJ, Fibbens NL, Powell H, et al., 'Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes', Journal of Allergy and Clinical Immunology, 133 997-1007 (2014) [C1]

Background Airway inflammation is associated with asthma exacerbation risk, treatment response, and disease mechanisms. Objective This study aimed to identify and validate a sputum gene expression signature that discriminates asthma inflammatory phenotypes. Methods An asthma phenotype biomarker discovery study generated gene expression profiles from induced sputum of 47 asthmatic patients. A clinical validation study (n = 59 asthmatic patients) confirmed differential expression of key genes. A 6-gene signature was identified and evaluated for reproducibility (n = 30 asthmatic patients and n = 20 control subjects) and prediction of inhaled corticosteroid (ICS) response (n = 71 asthmatic patients). Receiver operating characteristic curves were calculated, and area under the curve (AUC) values were reported. Results From 277 differentially expressed genes between asthma inflammatory phenotypes, we identified 23 genes that showed highly significant differential expression in both the discovery and validation populations. A signature of 6 genes, including Charcot-Leydon crystal protein (CLC); carboxypeptidase A3 (CPA3); deoxyribonuclease I-like 3 (DNASE1L3); IL-1ß (IL1B); alkaline phosphatase, tissue-nonspecific isozyme (ALPL); and chemokine (C-X-C motif) receptor 2 (CXCR2), was reproducible and could significantly (P <.0001) discriminate eosinophilic asthma from other phenotypes, including patients with noneosinophilic asthma (AUC, 89.6%), paucigranulocytic asthma (AUC, 92.6%), or neutrophilic asthma (AUC, 91.4%) and healthy control subjects (AUC, 97.6%), as well as discriminating patients with neutrophilic asthma from those with paucigranulocytic asthma (AUC, 85.7%) and healthy control subjects (AUC, 90.8). The 6-gene signature predicted ICS response (>12% change in FEV1; AUC, 91.5%). ICS treatment reduced the expression of CLC, CPA3, and DNASE1L3 in patients with eosinophilic asthma. Conclusions A sputum gene expression signature of 6 biomarkers reproducibly and significantly discriminates inflammatory phenotypes of asthma and predicts ICS treatment response. This signature has the potential to become a useful diagnostic tool to assist in the clinical diagnosis and management of asthma. © 2013 American Academy of Allergy, Asthma & Immunology.

DOI10.1016/j.jaci.2013.12.1091
CitationsScopus - 11Web of Science - 12
Co-authorsLisa Wood, Peter Gibson, Jodie Simpson, Katherine Baines
2014Gromowski T, Masojc B, Cybulski C, Górski B, Kluzniak W, Paszkowska-Szczur K, et al., 'Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study', Cancer Genetics, (2014) [C1]

The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated so far. Herein, we examined the possible association of E318K and a novel variant of the MITF gene, V320I, with the risk of cancers of different sites of origin in a Polish population. We assayed for the presence of the E318K and V320I missense mutations in 4,226 patients with one of six various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls from Poland. The E318K mutation was detected in 4 of 2,114 participants (0.19%) in the Polish control population, the V320I in 3 of 2,114 participants (0.14%) in the control group. We found no statistically significant differences in the prevalence of the E318K and V320I variants among cases and controls. We found two carriers of the E318K variant among melanoma patients (P = 0.95), one carrier among breast cancer patients (P = 0.77), one carrier among colorectal cancer patients (P = 0.82), and one carrier among kidney cancer patients (P = 0.64). Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon. © 2014 Elsevier Inc. All rights reserved.

DOI10.1016/j.cancergen.2014.03.003
CitationsScopus - 2Web of Science - 2
2014Shahijanian F, Parnell GP, McKay FC, Gatt PN, Shojoei M, O'Connor KS, et al., 'The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells', HUMAN MOLECULAR GENETICS, 23 1425-1434 (2014) [C1]
DOI10.1093/hmg/ddt529Author URL
CitationsWeb of Science - 1
Co-authorsPablo Moscato
2014Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ, et al., 'No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis', HUMAN MOLECULAR GENETICS, 23 1916-1922 (2014) [C1]
DOI10.1093/hmg/ddt574Author URL
CitationsWeb of Science - 2
Co-authorsPablo Moscato
2014Avery-Kiejda KA, Braye SG, Mathe A, Forbes JF, Scott RJ, 'Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer', BMC Cancer, 14 (2014) [C1]

Background: Breast cancer is the most common malignancy that develops in women, responsible for the highest cancer-associated death rates. Triple negative breast cancers represent an important subtype that have an aggressive clinical phenotype, are associated with a higher likelihood of metastasis and are not responsive to current targeted therapies. miRNAs have emerged as an attractive candidate for molecular biomarkers and treatment targets in breast cancer, but their role in the progression of triple negative breast cancer remains largely unexplored.Methods: This study has investigated miRNA expression profiles in 31 primary triple negative breast cancer cases and in 13 matched lymph node metastases compared with 23 matched normal breast tissues to determine miRNAs associated with the initiation of this disease subtype and those associated with its metastasis.Results: 71 miRNAs were differentially expressed in triple negative breast cancer, the majority of which have previously been associated with breast cancer, including members of the miR-200 family and the miR-17-92 oncogenic cluster, suggesting that the majority of miRNAs involved in the initiation of triple negative breast cancer are not subtype specific. However, the repertoire of miRNAs expressed in lymph node negative and lymph node positive triple negative breast cancers were largely distinct from one another. In particular, miRNA profiles associated with lymph node negative disease tended to be up-regulated, while those associated with lymph node positive disease were down-regulated and largely overlapped with the profiles of their matched lymph node metastases. From this, 27 miRNAs were identified that are associated with metastatic capability in the triple negative breast cancer subtype.Conclusions: These results provide novel insight into the repertoire of miRNAs that contribute to the initiation of and progression to lymph node metastasis in triple negative breast cancer and have important implications for the treatment of this breast cancer subtype. © 2014 Avery-Kiejda et al.; licensee BioMed Central Ltd.

DOI10.1186/1471-2407-14-51
CitationsScopus - 6Web of Science - 7
Co-authorsKelly Kiejda, John Forbes
2014Avery-Kiejda KA, Braye SG, Forbes JF, Scott RJ, 'The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer.', BMC Cancer, 14 253 (2014)
DOI10.1186/1471-2407-14-253Author URL
CitationsScopus - 3Web of Science - 3
Co-authorsJohn Forbes, Kelly Kiejda
2014Avery-Kiejda KA, Morten B, Wong-Brown MW, Mathe A, Scott RJ, 'The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome.', Carcinogenesis, 35 586-596 (2014) [C1]
DOI10.1093/carcin/bgt411Author URL
CitationsScopus - 2Web of Science - 2
Co-authorsKelly Kiejda, Michelle Wong-Brown
2014Cox AJ, Moscovis SM, Blackwell CC, Scott RJ, 'Cytokine gene polymorphism among Indigenous Australians.', Innate Immun, 20 431-439 (2014) [C1]
DOI10.1177/1753425913498911Author URL
CitationsScopus - 4Web of Science - 4
Co-authorsCaroline Blackwell
2013Masson AL, Talseth-Palmer BA, Evans T-J, Grice DM, Duesing K, Hannan GN, Scott RJ, 'Copy number variation in hereditary non-polyposis colorectal cancer', Genes, 4 536-555 (2013) [C1]
DOI10.3390/genes4040536
Co-authorsBente Talseth-Palmer
2013Moscovis S, Hall S, Burns C, Scott R, Blackwell C, 'Development of an experimental model for assessing the effects of cigarette smoke and virus infections on inflammatory responses to bacterial antigens.', Innate Immun, 20 647-658 (2013) [C1]
DOI10.1177/1753425913503893Author URL
CitationsScopus - 3Web of Science - 3
Co-authorsSharron Hall, Caroline Blackwell
2013Graves M, Benton M, Lea R, Boyle M, Tajouri L, Macartney-Coxson D, et al., 'Methylation differences at the HLA-DRB1 locus in CD4+ T-Cells are associated with multiple sclerosis.', Mult Scler, 20 1033-1041 (2013) [C1]
DOI10.1177/1352458513516529Author URL
CitationsScopus - 4Web of Science - 1
2013Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VAG, et al., 'A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis', PLoS ONE, 8 (2013) [C1]
DOI10.1371/journal.pone.0063300
CitationsScopus - 8
2013Terwisscha van Scheltinga AF, Bakker SC, van Haren NEM, Derks EM, Buizer-Voskamp JE, Boos HBM, et al., 'Genetic Schizophrenia Risk Variants Jointly Modulate Total Brain and White Matter Volume', Biological Psychiatry, 73 525-531 (2013) [C1]
DOI10.1016/j.biopsych.2012.08.017
CitationsScopus - 23
Co-authorsCarmel Loughland, Frans Henskens, Ulrich Schall, Pat Michie
2013Wong-Brown MW, McPhillips ML, Hipwell M, Pecenpetelovska G, Dooley S, Meldrum C, Scott RJ, 'cDNA analysis of the BRCA1 unclassified variant c.5194-12G > A', CLINICAL GENETICS, 84 505-506 (2013) [C3]
DOI10.1111/cge.12052Author URL
Co-authorsMichelle Wong-Brown
2013Dymerska D, Kurzawski G, Suchy J, Kladny J, Huzarski T, Gronwald J, et al., 'Lynch syndrome mutations shared by the baltic states and poland', Clinical Genetics, (2013) [C3]
DOI10.1111/cge.12251
2013Talseth-Palmer BA, Wijnen JT, Barker D, Vasen HFA, Scott RJ, 'Is the reported modifying effect of 8q23.3 and 11q23.1 on colorectal cancer risk for MLH1 mutation carriers valid? Reply', INTERNATIONAL JOURNAL OF CANCER, 133 1764-1764 (2013) [C3]
DOI10.1002/ijc.28178Author URL
Co-authorsBente Talseth-Palmer
2013Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Barker DJ, Ashton KA, et al., 'Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers', International Journal of Cancer, 132 1487-1729 (2013) [C1]
CitationsScopus - 6Web of Science - 7
Co-authorsBente Talseth-Palmer, Katie Ashton
2013Titmarsh CJ, Moscovis SM, Hall S, Tzanakaki G, Kesanopoulos K, Xirogianni A, et al., 'Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis', JOURNAL OF MEDICAL MICROBIOLOGY, 62 694-700 (2013) [C1]
DOI10.1099/jmm.0.058073-0Author URL
CitationsScopus - 2Web of Science - 3
Co-authorsCaroline Blackwell, Sharron Hall
2013Gardiner EJ, Cairns MJ, Liu B, Beveridge NJ, Carr V, Kelly B, et al., 'Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells', JOURNAL OF PSYCHIATRIC RESEARCH, 47 425-437 (2013) [C1]
DOI10.1016/j.jpsychires.2012.11.007Author URL
CitationsScopus - 13Web of Science - 14
Co-authorsMurray Cairns, Paul Tooney, Brian Kelly
2013Van Scheltinga AFT, Bakker SC, Van Haren NEM, Derks EM, Buizer-Voskamp JE, Cahn W, et al., 'Schizophrenia genetic variants are not associated with intelligence', Psychological Medicine, 43 2563-2570 (2013) [C1]

Background Schizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence. Method IQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data were calculated in a sample collected by the Psychiatric Genome-Wide Association Study (GWAS) Consortium (8690 schizophrenia patients and 11 831 controls). These were used to calculate individual PSSs in our independent sample of 350 schizophrenia patients and 322 healthy controls. Results Although significantly more genes were disrupted by deletions in schizophrenia patients compared to controls (p = 0.009), there was no effect of CNV measures on IQ. The PSS was associated with disease status (R 2 = 0.055, p = 2.1 × 10 -7) and with IQ in the entire sample (R 2 = 0.018, p = 0.0008) but the effect on IQ disappeared after correction for disease status. Conclusions Our data suggest that rare and common schizophrenia-associated variants do not explain the variation in IQ in healthy subjects or in schizophrenia patients. Thus, reductions in IQ in schizophrenia patients may be secondary to other processes related to schizophrenia risk. © Cambridge University Press 2013.

DOI10.1017/S0033291713000196
CitationsScopus - 12
Co-authorsUlrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2013Yadav S, Cotlarciuc I, Munroe PB, Khan MS, Nalls MA, Bevan S, et al., 'Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke', Stroke, 44 2703-2709 (2013) [C1]
DOI10.1161/STROKEAHA.113.002186Author URL
CitationsScopus - 3Web of Science - 3
Co-authorsJohn Attia, Liz Holliday, Jane Maguire
2013Chen J, Pande M, Huang Y-J, Wei C, Amos CI, Talseth-Palmer BA, et al., 'Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients', CARCINOGENESIS, 34 299-306 (2013) [C1]
DOI10.1093/carcin/bgs344Author URL
CitationsScopus - 3Web of Science - 3
Co-authorsBente Talseth-Palmer
2013Schache M, Richardson AJ, Mitchell P, Wang JJ, Rochtchina E, Viswanathan AC, et al., 'Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study Cohort', Ophthalmology, 120 292-297 (2013) [C1]
CitationsScopus - 6Web of Science - 4
Co-authorsLiz Holliday, John Attia
2013Barzideh J, Scott RJ, Aitken RJ, 'Analysis of the global methylation status of human spermatozoa and its association with the tendency of these cells to enter apoptosis', ANDROLOGIA, 45 424-429 (2013) [C1]
DOI10.1111/and.12033Author URL
CitationsScopus - 5Web of Science - 2
Co-authorsJohn Aitken
2013Acikyol B, Graham RM, Trinder D, House MJ, Olynyk JK, Scott RJ, et al., 'Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation', Neuroscience, 235 119-128 (2013) [C1]
DOI10.1016/j.neuroscience.2013.01.014
CitationsScopus - 1Web of Science - 1
Co-authorsLiz Milward
2013Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT Study', Annals of Neurology, 73 16-31 (2013) [C1]
CitationsScopus - 19Web of Science - 19
Co-authorsJohn Attia, Liz Holliday, Chris Levi
2013Greenop KR, Peters S, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Exposure to pesticides and the risk of childhood brain tumors', CANCER CAUSES & CONTROL, 24 1269-1278 (2013) [C1]
DOI10.1007/s10552-013-0205-1Author URL
CitationsScopus - 4Web of Science - 4
Co-authorsJohn Attia
2013Milne E, Greenop KR, Scott RJ, De Klerk NH, Bower C, Ashton LJ, et al., 'Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors', Cancer Causes and Control, 24 391-402 (2013) [C1]

Purpose: Childhood acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and brain tumors (CBTs) are the leading cause of cancer death in children. In our Australian case-control studies of these cancers, we investigated whether parental alcohol consumption before or during pregnancy was associated with risk. Methods: Cases were identified through the ten Australian pediatric oncology centers, and controls were recruited through national random-digit dialling. Detailed information on alcohol consumption, including beverage type, amount, and timing, was collected from 690 case families (388 ALL and 302 CBT) and 1,396 control families. Data were analyzed using unconditional logistic regression. Results: We found no evidence that maternal alcohol use before or during pregnancy was associated with an increased risk of either cancer; rather, there was evidence of inverse associations, particularly with wine. For both cancers, we observed U-shaped associations with paternal alcohol consumption in the year before the pregnancy, possibly driven by reduced risk at moderate levels of beer and wine intake and increased risk associated with high levels of beer intake. Moderate intake of spirits by fathers was associated with an increased risk of CBT but not ALL. These findings would be strengthened by corroboration in other studies. While the inverse associations with wine may be interesting mechanistically, the public health message remains that maternal alcohol use during pregnancy causes serious disorders in the offspring and should be avoided. Conclusions: Our findings suggest that men, as well as women, should limit their alcohol intake when planning a pregnancy. © 2012 Springer Science+Business Media Dordrecht.

DOI10.1007/s10552-012-0125-5
CitationsScopus - 9Web of Science - 9
2013Lee SH, Harold D, Nyholt DR, Goddard ME, Zondervan KT, Williams J, et al., 'Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis', HUMAN MOLECULAR GENETICS, 22 832-841 (2013) [C1]
DOI10.1093/hmg/dds491Author URL
CitationsScopus - 37Web of Science - 34
Co-authorsPablo Moscato
2013Cortes A, Field J, Glazov EA, Hadler J, Stankovich J, Brown MA, 'Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes', HUMAN MOLECULAR GENETICS, 22 2283-2292 (2013) [C1]
DOI10.1093/hmg/ddt062Author URL
CitationsScopus - 6Web of Science - 7
Co-authorsPablo Moscato
2013Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al., 'Genome-wide association analyses identify 18 new loci associated with serum urate concentrations', Nature Genetics, 45 145-154 (2013) [C1]
CitationsScopus - 66Web of Science - 67
Co-authorsLiz Holliday, Christopher Oldmeadow, John Attia
2013Rietveld CA, Medland SE, Derringer J, Yang J, Esko T, Martin NW, et al., 'GWAS of 126,559 individuals identifies genetic variants associated with educational attainment', Science, 340 1467-1471 (2013) [C1]
CitationsScopus - 62Web of Science - 64
Co-authorsChristopher Oldmeadow, Liz Holliday, John Attia
2013Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, Mirecka A, Gapska P, Górski B, et al., 'Xeroderma pigmentosum genes and melanoma risk', International Journal of Cancer, 133 1094-1101 (2013) [C1]
DOI10.1002/ijc.28123Author URL
CitationsScopus - 10Web of Science - 9
2013Milne E, Greenop KR, Scott RJ, Ashton LJ, Cohn RJ, de Klerk NH, Armstrong BK, 'Parental smoking and risk of childhood brain tumors', International Journal of Cancer, 133 253-259 (2013) [C1]
DOI10.1002/ijc.28004Author URL
CitationsScopus - 5Web of Science - 5
2013Cox MB, Bowden NA, Scott RJ, Lechner-Scott J, 'Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation', Multiple Sclerosis Journal, 19 1268-1274 (2013) [C1]
DOI10.1177/1352458513475493Author URL
CitationsScopus - 1Web of Science - 1
Co-authorsNikola Bowden
2013Green MJ, Cairns MJ, Wu J, Dragovic M, Jablensky A, Tooney PA, et al., 'Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia', MOLECULAR PSYCHIATRY, 18 774-780 (2013) [C1]
DOI10.1038/mp.2012.84Author URL
CitationsScopus - 9Web of Science - 25
Co-authorsPaul Tooney, Murray Cairns
2013Talseth-Palmer BA, Wijnen JT, Grice DM, Scott RJ, 'Genetic modifiers of cancer risk in Lynch syndrome: a review', FAMILIAL CANCER, 12 207-216 (2013) [C1]
DOI10.1007/s10689-013-9614-2Author URL
CitationsScopus - 3Web of Science - 2
Co-authorsBente Talseth-Palmer
2013Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, et al., 'Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error', Human Molecular Genetics, 22 2754-2764 (2013) [C1]
CitationsScopus - 12Web of Science - 12
Co-authorsJohn Attia, Liz Holliday
2013Kumarasinghe N, Beveridge NJ, Gardiner E, Scott RJ, Yasawardene S, Perera A, et al., 'Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication', INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY, 16 1483-1503 (2013) [C1]
DOI10.1017/S1461145713000035Author URL
CitationsScopus - 5Web of Science - 5
Co-authorsPaul Tooney, Ulrich Schall
2013Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Avery-Kiejda KA, Scott RJ, 'STaRRRT: a table of short tandem repeats in regulatory regions of the human genome', BMC GENOMICS, 14 (2013) [C1]
DOI10.1186/1471-2164-14-795Author URL
CitationsScopus - 4Web of Science - 5
Co-authorsLiz Holliday, Kelly Kiejda, Nikola Bowden
2013Lener MR, Gupta S, Scott RJ, Tootsi M, Kulp M, Tammesoo M, et al., 'Can selenium levels act as a marker of colorectal cancer risk?', BMC Cancer, 13 xx-xx (2013) [C1]
DOI10.1186/1471-2407-13-214Author URL
CitationsScopus - 5Web of Science - 5
2013Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, et al., 'All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs', PLOS GENETICS, 9 (2013) [C1]
DOI10.1371/journal.pgen.1003449Author URL
CitationsScopus - 41Web of Science - 40
Co-authorsUlrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2013Talseth-Palmer BA, Wijnen JT, Andreassen EK, Barker D, Jagmohan-Changur S, Tops CM, et al., 'The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.', Hered Cancer Clin Pract, 11 20 (2013) [C1]
DOI10.1186/1897-4287-11-20Author URL
CitationsScopus - 1Web of Science - 1
Co-authorsBente Talseth-Palmer
2013Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'Continuing difficulties in interpreting CNV data: Lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients', BMC Medical Genomics, 6 1-13 (2013) [C1]
CitationsScopus - 3Web of Science - 3
Co-authorsBente Talseth-Palmer, Liz Holliday, John Attia
2013Lin R, Charlesworth J, Stankovich J, Perreau VM, Brown MA, Taylor BV, Moscato P, 'Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis', PLOS ONE, 8 (2013) [C1]
DOI10.1371/journal.pone.0056379Author URL
CitationsScopus - 8Web of Science - 5
Co-authorsPablo Moscato
2013Bowden NA, Ashton KA, Vilain RE, Avery-Kiejda KA, Davey RJ, Murray HC, et al., 'Regulators of Global Genome Repair Do Not Respond to DNA Damaging Therapy but Correlate with Survival in Melanoma', PLOS ONE, 8 (2013) [C1]
DOI10.1371/journal.pone.0070424Author URL
CitationsScopus - 1Web of Science - 1
Co-authorsNikola Bowden, Kelly Kiejda, Katie Ashton, Xu Zhang
2013Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernandez-Rozadilla C, Carracedo A, et al., 'Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility', PLOS ONE, 8 (2013) [C1]
DOI10.1371/journal.pone.0072091Author URL
CitationsScopus - 3Web of Science - 3
Co-authorsBente Talseth-Palmer
2013Sun C, Young TL, Mackey DA, Van Zuydam NR, Doney ASF, Palmer CNA, et al., 'Genetic loci for retinal arteriolar microcirculation', PLoS One, 8 e65804 (2013) [C1]
CitationsScopus - 2Web of Science - 2
Co-authorsJohn Attia, Liz Holliday
2013Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, Holliday EG, et al., 'Genome-wide association study of retinopathy in individuals without diabetes', PLoS One, 8 e54232 (2013) [C1]
CitationsScopus - 4Web of Science - 5
Co-authorsJohn Attia, Liz Holliday
2013Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, Sim X, et al., 'Insights into the genetic architecture of early stage age-related macular degeneration: A genome-wide association study meta-analysis', PLoS One, 8 e53830 (2013) [C1]
CitationsScopus - 27Web of Science - 26
Co-authorsLiz Holliday, John Attia
2013Johnstone DM, Riveros C, Heidari M, Graham RM, Trinder D, Berretta R, et al., 'Evaluation of Different Normalization and Analysis Procedures for Illumina Gene Expression Microarray Data Involving Small Changes', Microarrays, 2 131-152 (2013) [C1]
Co-authorsPablo Moscato, Liz Milward, Regina Berretta
2012Milne E, Greenop KR, Scott R, Bailey HD, Attia JR, Dalla-Pozza L, et al., 'Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia', American Journal of Epidemiology, 175 43-53 (2012) [C1]
CitationsScopus - 28Web of Science - 25
Co-authorsJohn Attia
2012Delima RD, Riveros RC, Olynyk JK, Scott R, Moscato PA, Milward AE, et al., 'Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading', Brain Research, 1448 144-152 (2012) [C1]
CitationsScopus - 6Web of Science - 6
Co-authorsLiz Milward, Pablo Moscato
2012Van Der Luijt RB, Devilee P, Easton DF, Peock S, Frost D, Platte R, et al., 'Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study', British Journal of Cancer, 106 2016-2024 (2012) [C1]
CitationsScopus - 9Web of Science - 9
2012Lill CM, Liu T, Schjeide B-MM, Roehr JT, Akkad DA, Damotte V, et al., 'Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects', Journal of Medical Genetics, 49 558-562 (2012) [C1]
CitationsScopus - 8Web of Science - 8
Co-authorsPablo Moscato
2012Ashton KA, Scurry JP, Rutherford J, Otton GR, Scott R, Bowden NA, 'Nodular prurigo of the vulva', Pathology, 44 565-567 (2012) [C3]
CitationsScopus - 1Web of Science - 1
Co-authorsNikola Bowden, Katie Ashton
2012Young KMN, Scurry JP, Jaaback KS, Bowden NA, Scott R, 'Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype', Pathology, 44 257-260 (2012) [C3]
CitationsScopus - 2Web of Science - 2
Co-authorsNikola Bowden
2012Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, et al., 'Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke?', Stroke, 43 980-U143 (2012) [C1]
CitationsScopus - 11Web of Science - 11
Co-authorsLisa Lincz, Chris Levi, Liz Holliday, Jane Maguire, John Attia, Pablo Moscato
2012Bailey HD, Miller M, Langridge A, De Klerk NH, Van Bockxmeer FM, Attia JR, et al., 'Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and the risk of childhood acute lymphoblastic leukemia', Nutrition and Cancer, 64 1122-1130 (2012) [C1]
DOI10.1080/01635581.2012.707278
CitationsScopus - 6Web of Science - 4
Co-authorsJohn Attia
2012Smith CJ, Bensing S, Burns C, Robinson PJ, Kasperlik-Zaluska AA, Scott R, et al., 'Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis; immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays', European Journal of Endocrinology, 166 391-398 (2012) [C1]
CitationsScopus - 17Web of Science - 16
2012Orsi L, Rudant J, Bonaventure A, Goujon-Bellec S, Corda E, Evans T-J, et al., 'Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE)', Leukemia, 26 2561-2564 (2012) [C1]
CitationsScopus - 24Web of Science - 23
2012Talseth-Palmer B, Scott R, Vasen HFA, Wijnen JT, '8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome', European Journal of Human Genetics, 20 487-488 (2012) [C3]
CitationsScopus - 2Web of Science - 2
Co-authorsBente Talseth-Palmer
2012Milne E, Greenop KR, Bower C, Miller M, Van Bockxmeer FM, Scott R, et al., 'Maternal use of folic acid and other supplements and risk of childhood brain tumors', Cancer Epidemiology Biomarkers and Prevention, 21 1933-1941 (2012) [C1]
CitationsScopus - 21Web of Science - 21
2012Long J, Zheng W, Xiang Y-B, Lose F, Thompson D, Tomlinson I, et al., 'Genome-wide association study identifies a possible susceptibility locus for endometrial cancer', Cancer Epidemiology, Biomarkers & Prevention, 21 980-987 (2012) [C1]
CitationsScopus - 13Web of Science - 15
2012Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Genome-wide association meta-analysis identifies new endometriosis risk loci', Nature Genetics, 44 1355-1359 (2012) [C1]
CitationsScopus - 54Web of Science - 46
Co-authorsLiz Holliday, John Attia
2012Holliday EG, Maguire JM, Evans T-J, Koblar SA, Jannes J, Sturm J, et al., 'Common variants at 6p21.1 are associated with large artery atherosclerotic stroke', Nature Genetics, 44 1147-1153 (2012) [C1]
CitationsScopus - 44Web of Science - 44
Co-authorsLisa Lincz, Jane Maguire, Wayne Smith, Pablo Moscato, Mark Parsons, Roseanne Peel, Christopher Oldmeadow, Liz Holliday, Chris Levi, John Attia
2012Okada Y, Sim X, Go MJ, Wu J-Y, Gu D, Takeuchi F, et al., 'Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations', Nature Genetics, 44 904-909 (2012) [C1]
CitationsScopus - 33Web of Science - 39
Co-authorsChristopher Oldmeadow, Liz Holliday, John Attia
2012Gardiner EJ, Beveridge NJ, Wu JQ, Carr VJ, Scott R, Tooney PA, Cairns MJ, 'Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells', Molecular Psychiatry, 17 827-840 (2012) [C1]
CitationsScopus - 57Web of Science - 50
Co-authorsMurray Cairns, Paul Tooney
2012Johnstone DM, Graham RM, Trinder D, Riveros RC, Olynyk JK, Scott R, et al., 'Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk', Journal of Alzheimers Disease, 30 791-803 (2012) [C1]
CitationsScopus - 2Web of Science - 2
Co-authorsPablo Moscato, Liz Milward
2012Yan J, Liu J, Lin CY, Scott R, Lechner-Scott J, Brown MA, et al., 'Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis', International Journal of Molecular Sciences, 13 13667-13679 (2012) [C1]
CitationsScopus - 3Web of Science - 5
Co-authorsPablo Moscato
2012Mathers JC, Movahedi M, Macrae F, Mecklin J-P, Moeslein G, Olschwang S, et al., 'Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial', LANCET ONCOLOGY, 13 1242-1249 (2012) [C1]
DOI10.1016/S1470-2045(12)70475-8Author URL
CitationsScopus - 21Web of Science - 21
2012Cox MB, Ban M, Bowden NA, Baker A, Scott R, Lechner-Scott J, 'Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis', Multiple Sclerosis Journal, 18 16-22 (2012) [C1]
CitationsScopus - 22Web of Science - 21
Co-authorsNikola Bowden
2012Reeves SG, Meldrum C, Groombridge C, Spigelman A, Suchy J, Kurzawski G, et al., 'DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome', Cancer Epidemiology, 36 183-189 (2012) [C1]
CitationsScopus - 9Web of Science - 6
2012Kurzawski G, Dymerska D, Serrano-Fernandez P, Trubicka J, Masojc BO, Jakubowska A, Scott R, 'DNA and RNA analyses in detection of genetic predisposition to cancer', Hereditary Cancer in Clinical Practice, 10 17 (2012) [C1]
2012Kim K-T, Carroll AP, Mashkani B, Cairns MJ, Small D, Scott R, 'MicroRNA-16 Is down-regulated in mutated FLT3 expressing murine myeloid FDC-P1 cells and interacts with Pim-1', PLOS One, 7 e44546 (2012) [C1]
CitationsScopus - 7Web of Science - 1
Co-authorsMurray Cairns
2012Wu JQ, Wang X, Beveridge NJ, Tooney PA, Scott R, Carr VJ, Cairns MJ, 'Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia', PLoS One, 7 e36351 (2012) [C1]
CitationsScopus - 21Web of Science - 20
Co-authorsPaul Tooney, Murray Cairns
2012Kim K-T, Mossman D, Small D, Scott R, 'Gene expression profiling of human myeloid leukemic MV4-11 cells treated with 5-Aza-2-deoxycytidine', Journal of Cancer Therapy, 3 177-182 (2012) [C1]
2011Ritchie ME, Ruijie L, Carvalho BS, Irizarry RA, Bahlo M, Booth DR, et al., 'Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips', BMC Bioinformatics, 12 68-79 (2011) [C1]
DOI10.1186/1471-2105-12-68
CitationsScopus - 13Web of Science - 11
Co-authorsPablo Moscato
2011Kiejda KA, Bowden NA, Croft AJ, Scurr LL, Kairupan CF, Ashton KA, et al., 'P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation', BMC Cancer, 11 203-219 (2011) [C1]
DOI10.1186/1471-2407-11-203
CitationsScopus - 28Web of Science - 21
Co-authorsXu Zhang, Kelly Kiejda, Katie Ashton, Nikola Bowden, Bente Talseth-Palmer
2011Hondow HL, Fox SB, Mitchell G, Scott R, Beshay V, Wong SQ, et al., 'A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes', BMC Cancer, 11 265 (2011) [C1]
DOI10.1186/1471-2407-11-265
CitationsScopus - 10Web of Science - 11
2011Patsopoulos NA, De Bakker PIW, Esposito F, Reischl J, Lehr S, Bauer D, et al., 'Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci', Annals of Neurology, 70 897-912 (2011) [C1]
DOI10.1002/ana.22609
CitationsScopus - 106Web of Science - 98
Co-authorsPablo Moscato
2011Talseth-Palmer B, Scott R, 'Genetic variation and its role in malignancy', International Journal of Biomedical Science, 7 158-171 (2011) [C1]
CitationsScopus - 1
Co-authorsBente Talseth-Palmer
2011De Bakker PIW, Kappos L, Polman CH, Chibnik LB, Hafler DA, Matthews PM, et al., 'Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data', Genome Medicine, 3 1-11 (2011) [C1]
DOI10.1186/gm217
CitationsScopus - 33
Co-authorsPablo Moscato
2011Mossman D, Scott R, 'Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation', PLoS ONE, 6 e23127 (2011) [C1]
DOI10.1371/journal.pone.0023127
CitationsScopus - 21Web of Science - 15
2011Jaworowska E, Trubicka J, Lener MR, Masojc B, Zlowocka-Perlowska E, McKay JD, et al., 'Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population', PLoS ONE, 6 e25057 (2011) [C1]
DOI10.1371/journal.pone.0025057
CitationsScopus - 16Web of Science - 17
2011Ma GZM, Stankovich J, Kilpatrick TJ, Binder MD, Field J, Bahlo M, et al., 'Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility', PLoS ONE, 6 1-6 (2011) [C1]
DOI10.1371/journal.pone.0016964
CitationsScopus - 7Web of Science - 8
Co-authorsPablo Moscato
2011Vilain RE, Dudding TE, Braye SG, Groombridge C, Meldrum C, Spigelman AD, et al., 'Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?', Clinical Genetics, 79 554-560 (2011) [C3]
DOI10.1111/j.1399-0004.2010.01489.x
CitationsScopus - 4Web of Science - 2
Co-authorsLeonie Ashman, Stephen Ackland
2011Bailey HD, Armstrong BK, De Klerk NH, Fritschi L, Attia JR, Scott R, et al., 'Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia', International Journal of Cancer, 129 1678-1688 (2011) [C1]
CitationsScopus - 11Web of Science - 9
Co-authorsJohn Attia
2011Talseth-Palmer B, Brenne IS, Ashton KA, Evans T-J, McPhillips M, Groombridge C, et al., 'Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome', Journal of Medical Genetics, 48 279-284 (2011) [C1]
DOI10.1136/jmg.2010.079962
CitationsScopus - 25Web of Science - 20
Co-authorsBente Talseth-Palmer, Katie Ashton
2011Zacharin M, Bajpai A, Chow CW, Catto-Smith A, Stratakis C, Wong-Brown M, Scott R, 'Gastrointestinal polyps in McCune Albright syndrome', Journal of Medical Genetics, 48 458-461 (2011) [C1]
DOI10.1136/jmg.2010.086330
CitationsScopus - 6Web of Science - 4
Co-authorsMichelle Wong-Brown
2011O'Gorman C, Freeman S, Taylor BV, Butzkueven H, Broadley SA, Bahlo M, et al., 'Familial recurrence risks for multiple sclerosis in Australia', Journal of Neurology, Neurosurgery and Psychiatry, 82 1351-1354 (2011) [C1]
DOI10.1136/jnnp.2010.233064
CitationsScopus - 6Web of Science - 5
Co-authorsPablo Moscato
2011The International Multiple Sclerosis Consortium, Control TWTC, Cox MB, Lechner-Scott J, Scott R, 'Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis', Nature, 476 214-219 (2011) [C1]
CitationsScopus - 736Web of Science - 678
2011Baines KJ, Simpson JL, Wood LG, Scott R, Gibson PG, 'Systemic upregulation of neutrophil a-defensins and serine proteases in neutrophilic asthma', Thorax, 66 942-947 (2011) [C1]
CitationsScopus - 15Web of Science - 15
Co-authorsLisa Wood, Jodie Simpson, Peter Gibson, Katherine Baines
2011Baines KJ, Simpson JL, Wood LG, Scott R, Gibson PG, 'Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples', Journal of Allergy and Clinical Immunology, 127 153.e9-160.e9 (2011) [C1]
DOI10.1016/j.jaci.2010.10.024
CitationsScopus - 67Web of Science - 55
Co-authorsLisa Wood, Peter Gibson, Katherine Baines, Jodie Simpson
2011Kiejda KA, Wong-Brown M, Scott R, 'Genetic markers in breast cancer - How far have we come from BRCA1?', Asia-Pacific Journal of Molecular Medicine, 1 1-15 (2011) [C1]
Co-authorsKelly Kiejda, Michelle Wong-Brown
2011Burn J, Gerdes A-M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, et al., 'Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial', Lancet, 378 2081-2087 (2011) [C1]
DOI10.1016/S0140-6736(11)61049-0
CitationsScopus - 199Web of Science - 165
2011Wong-Brown M, Nordfors C, Mossman D, Pecenpetelovska G, Kiejda KA, Talseth-Palmer B, et al., 'BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer', Breast Cancer Research and Treatment, 127 853-859 (2011) [C1]
DOI10.1007/s10549-011-1443-0
CitationsScopus - 39Web of Science - 37
Co-authorsNikola Bowden, Bente Talseth-Palmer, Kelly Kiejda, Michelle Wong-Brown
2011Yotova V, Lefebvre J-F, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S, et al., 'An X-linked haplotype of Neandertal origin is present among all non-African populations', Molecular Biology and Evolution, 28 1957-1962 (2011) [C1]
DOI10.1093/molbev/msr024
CitationsScopus - 21Web of Science - 24
2011Oldmeadow CJ, Riveros RC, Holliday EG, Scott R, Moscato PA, Wang JJ, et al., 'Sifting the wheat from the chaff: Prioritizing GWAS results by identifying consistency across analytical methods', Genetic Epidemiology, 35 745-754 (2011) [C1]
DOI10.1002/gepi.20622
CitationsScopus - 5Web of Science - 5
Co-authorsLiz Holliday, Christopher Oldmeadow, John Attia, Pablo Moscato
2011Milne E, Royle JA, Bennett LC, De Klerk NH, Bailey HD, Bower C, et al., 'Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: Results from an Australian case-control study', Cancer Causes & Control, 22 207-218 (2011) [C1]
DOI10.1007/s10552-010-9688-1
CitationsScopus - 7Web of Science - 5
Co-authorsJohn Attia
2011Maguire JM, Thakkinstian A, Levi CR, Lincz L, Bisset L, Sturm J, et al., 'Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functional outcome: A novel finding', Journal of Stroke and Cerebrovascular Diseases, 20 134-144 (2011) [C1]
DOI10.1016/j.jstrokecerebrovasdis.2009.10.011
CitationsScopus - 21Web of Science - 20
Co-authorsJohn Attia, Lisa Lincz, Chris Levi, Jane Maguire
2011Gwas Consortium, Henskens FA, Loughland CM, Michie PT, Schall UA, Scott R, 'Genome-wide association study identifies five new schizophrenia loci', Nature Genetics, 43 969-U77 (2011) [C1]
CitationsScopus - 619Web of Science - 385
Co-authorsFrans Henskens, Carmel Loughland, Pat Michie, Ulrich Schall
2011Australian Ntl Endometrial Cancer Study Group, Scott R, Ashton KA, Proietto AM, Otton GR, Ntl Study Of Endometrical Cancer Genetics Group, 'Genome-wide association study identifies a common variant associated with risk of endometrial cancer', Nature Genetics, 43 451-455 (2011) [C1]
DOI10.1038/ng.812
CitationsScopus - 43Web of Science - 43
Co-authorsKatie Ashton
2011Khor CC, Davila S, Breunis WB, Lee YC, Shimizu C, Wright VJ, et al., 'Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease', Nature Genetics, 43 1241-1248 (2011) [C1]
CitationsScopus - 78Web of Science - 74
Co-authorsJohn Attia, Liz Holliday
2010Dymerska D, Serrano-Fernandez P, Suchy J, Plawski A, Slomski R, Kaklewski K, et al., 'Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch Syndrome and FAP patients', Journal of Molecular Diagnostics, 12 82-90 (2010) [C1]
DOI10.2353/jmoldx.2010.090063
CitationsScopus - 2Web of Science - 2
2010Attia JR, Thakkinstian A, McElduff P, Milne E, Dawson S, Scott R, et al., 'Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium', Statistical Applications in Genetics and Molecular Biology, 9 17 (2010) [C1]
DOI10.2202/1544-6115.1463
CitationsScopus - 10Web of Science - 5
Co-authorsJohn Attia
2010Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, et al., 'Four Novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation In Vivo', Plos Genetics, 6 1-12 (2010) [C1]
DOI10.1371/journal.pgen.1001184
CitationsScopus - 54Web of Science - 50
Co-authorsLiz Holliday, John Attia
2010Talseth-Palmer B, McPhillips M, Groombridge C, Spigelman A, Scott R, 'MSH6 and PMS2 mutation positive Australian Lynch syndrome families: Novel mutations, cancer risk and age of diagnosis of colorectal cancer', Hereditary Cancer in Clinical Practice, 8 1-10 (2010) [C1]
DOI10.1186/1897-4287-8-5
CitationsScopus - 10Web of Science - 9
Co-authorsBente Talseth-Palmer
2010Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, Gilbert M, et al., 'Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk', Cancer Epidemiology, 34 328-337 (2010) [C1]
DOI10.1016/j.canep.2010.03.005
CitationsScopus - 25Web of Science - 25
Co-authorsKatie Ashton, Ian Symonds, John Attia
2010Jensen CJ, Stankovich J, Van der Walt A, Bahlo M, Taylor BV, van der Mei IAF, et al., 'Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients', PLOS ONE, 5 (2010) [C1]
DOI10.1371/journal.pone.0010003Author URL
CitationsScopus - 17Web of Science - 17
Co-authorsPablo Moscato
2010Cox MB, Cairns MJ, Gandhi KS, Carroll AP, Moscovis CC, Stewart GJ, et al., 'MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood', Plos One, 5 e12132 (2010) [C1]
DOI10.1371/journal.pone.0012132
CitationsScopus - 90Web of Science - 75
Co-authorsPablo Moscato, Murray Cairns
2010Riveros RC, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta RE, et al., 'A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis', Plos One, 5 1-28 (2010) [C1]
DOI10.1371/journal.pone.0014176
CitationsScopus - 18Web of Science - 18
Co-authorsPablo Moscato, Regina Berretta
2010Loughland CM, Draganic D, McCabe KL, Richards JM, Nasir MA, Allen J, et al., 'Australian Schizophrenia Research Bank: A database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia', Australian and New Zealand Journal of Psychiatry, 44 1029-1035 (2010) [C1]
DOI10.3109/00048674.2010.501758
CitationsWeb of Science - 19
Co-authorsPat Michie, Paul Tooney, Frans Henskens, Carmel Loughland, Ulrich Schall
2010Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Nucleotide excision repair gene expression after cisplatin treatment in melanoma', Cancer Research, 70 7918-7926 (2010) [C1]
CitationsScopus - 8Web of Science - 7
Co-authorsKatie Ashton, Kelly Kiejda, Nikola Bowden, Xu Zhang
2010Holliday EG, Scott R, Attia JR, 'Evidence-based medicine in the era of biomarkers: Teaching a new dog old tricks?', Clinical Pharmacology and Therapeutics, 88 740-742 (2010) [C2]
DOI10.1038/clpt.2010.214
CitationsScopus - 4Web of Science - 2
Co-authorsLiz Holliday, John Attia
2010Milne E, Royle JA, Miller M, Bower C, De Klerk NH, Bailey HD, et al., 'Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring', International Journal of Cancer, 126 2690-2699 (2010) [C1]
DOI10.1002/ijc.24969
CitationsScopus - 32Web of Science - 27
Co-authorsJohn Attia
2010Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'BRCA1-associated breast and ovarian cancer risks in Poland: No association with commonly studied polymorphisms', Breast Cancer Research and Treatment, 119 201-211 (2010) [C1]
DOI10.1007/s10549-009-0390-5
CitationsScopus - 38Web of Science - 36
2010Dudding TE, Lawrence O, Winship I, Froyen G, Vandewalle J, Scott R, Shelling AN, 'Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure', Human Reproduction, 25 3159-3160 (2010) [C3]
CitationsScopus - 9Web of Science - 7
2010McEvoy MA, Smith WT, D'Este CA, Duke JM, Peel R, Schofield PW, et al., 'Cohort Profile: The Hunter Community Study', International Journal of Epidemiology, 39 1452-1463 (2010) [C1]
DOI10.1093/ije/dyp343
CitationsScopus - 52Web of Science - 51
Co-authorsRoseanne Peel, Mddah01, Peter Schofield, Derek Smith, John Attia, Julie Byles, Wayne Smith, Ben Ewald, Catherine Deste
2010Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, et al., 'A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis', PLoS ONE, 5 (2010) [C1]
DOI10.1371/journal.pone.0013454
CitationsScopus - 18
2010Baines KJ, Simpson JL, Bowden NA, Scott R, Gibson PG, 'Differential gene expression and cytokine production from neutrophils in asthma phenotypes', European Respiratory Journal, 35 522-531 (2010) [C1]
DOI10.1183/09031936.00027409
CitationsScopus - 30Web of Science - 24
Co-authorsJodie Simpson, Peter Gibson, Katherine Baines, Nikola Bowden
2010Scott R, 'Genetics of colorectal cancers', VIRCHOWS ARCHIV, 457 101-102 (2010) [C1]
Author URL
2010Gandhi KS, McKay FC, Cox MB, Riveros RC, Armstrong N, Heard RN, et al., 'The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis', Human Molecular Genetics, 19 2134-2143 (2010) [C1]
DOI10.1093/hmg/ddq090
CitationsScopus - 39Web of Science - 38
Co-authorsPablo Moscato
2010Out AA, Tops CMJ, Nielsen M, Weiss MM, Van Minderhout IJHM, Fokkema IFAC, et al., 'Leiden Open Variation Database of the MUTYH Gene', Human Mutation, 31 1205-1215 (2010) [C1]
DOI10.1002/humu.21343
CitationsScopus - 28Web of Science - 26
2010Booth DR, Heard RN, Stewart GJ, Cox M, Scott R, Lechner-Scott J, et al., 'Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis', Nature Genetics, 42 469-470 (2010) [C3]
CitationsScopus - 16Web of Science - 16
2010Cox AJ, Gleeson M, Pyne DB, Callister R, Fricker PA, Scott R, 'Cytokine gene polymorphisms and risk for Upper Respiratory Symptoms in highly-trained athletes', Exercise Immunology Review, 16 8-21 (2010) [C1]
CitationsScopus - 11Web of Science - 9
Co-authorsRobin Callister, Maree Gleeson
2010Scott R, 'Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer?', Breast Cancer Research, 12 1-3 (2010) [C3]
DOI10.1186/bcr2474
CitationsScopus - 1
2010Esposito F, Patsopoulos NA, Cepok S, Kockum I, Leppa V, Booth DR, et al., 'IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci', Genes and Immunity, 11 397-405 (2010) [C1]
DOI10.1038/gene.2010.28
CitationsScopus - 33Web of Science - 26
2010Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, Scott R, 'Toll-Like Receptor (TLR) and Nucleosome-binding Oligomerization Domain (NOD) gene polymorphisms and endometrial cancer risk', BMC Cancer, 10 1-7 (2010) [C1]
DOI10.1186/1471-2407-10-382
CitationsScopus - 21Web of Science - 21
Co-authorsJohn Attia, Ian Symonds, Katie Ashton
2010Mossman D, Kim K-T, Scott R, 'Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists', BMC Cancer, 10 1-10 (2010) [C1]
DOI10.1186/1471-2407-10-366
CitationsScopus - 37Web of Science - 30
2010Trubicka J, Grabowska-Klujszo E, Suchy J, Masojc B, Serrano-Fernandez P, Kurzawski G, et al., 'Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility', BMC Cancer, 10 1-6 (2010) [C1]
DOI10.1186/1471-2407-10-420
CitationsScopus - 10Web of Science - 10
2009Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Estrogen receptor polymorphisms and the risk of endometrial cancer', BJOG: An International Journal of Obstetrics and Gynaecology, 116 1053-1061 (2009) [C1]
DOI10.1111/j.1471-0528.2009.02185.x
CitationsScopus - 27Web of Science - 25
Co-authorsKatie Ashton, Ian Symonds, John Attia
2009Whitehall V, Tran K, Umapathy A, Grieu F, Hewitt C, Evans T-J, et al., 'A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting', JOURNAL OF MOLECULAR DIAGNOSTICS, 11 543-552 (2009) [C1]
DOI10.2353/jmoldx.2009.090057Author URL
CitationsScopus - 83Web of Science - 78
2009Ashton KA, Proietto AM, Otton GR, Symonds IM, Scott R, 'Genetic variants in MUTYH are not associated with endometrial cancer risk', Hereditary Cancer in Clinical Practice, 7 1-5 (2009) [C1]
DOI10.1186/1897-4287-7-3
CitationsScopus - 6Web of Science - 5
Co-authorsIan Symonds, Katie Ashton
2009Lubinski J, Sijmons RH, Scott R, 'Hereditary cancer in clinical practice transfers to BioMed Central', Hereditary Cancer in Clinical Practice, 7 Article 1 (2009) [C3]
DOI10.1186/1897-4287-7-1
2009Kladny J, Suchy J, Klujszo-Grabowska E, Kacperski T, Scott R, Kurzawski G, Lubinski J, 'Clinical characteristics of tumors derived from colorectal cancer patients who harbor the Tumor Necrosis Factor beta-1031T/T and NOD2 3020insC polymorphism', Cancer Epidemiology, 33 161-163 (2009) [C1]
DOI10.1016/j.canep.2009.06.004
CitationsScopus - 2Web of Science - 1
2009Gapska P, Scott R, Serrano-Fernandez P, Mirecka A, Rassoud I, Gorski B, et al., 'Vitamin D receptor variants and the malignant melanoma risk: A population-based study', Cancer Epidemiology, 33 103-107 (2009) [C1]
DOI10.1016/j.canep.2009.06.006
CitationsScopus - 19Web of Science - 17
2009Milne E, Royle JA, De Klerk NH, Blair E, Bailey H, Cole C, et al., 'Fetal growth and risk of childhood acute lymphoblastic leukemia: Results from an Australian case-control study', American Journal of Epidemiology, 170 221-228 (2009) [C1]
DOI10.1093/aje/kwp117
CitationsScopus - 28Web of Science - 27
Co-authorsJohn Attia
2009Tomlinson IPM, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, et al., 'COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer', British Journal of Cancer, 102 447-454 (2009) [C1]
DOI10.1038/sj.bjc.6605338
CitationsScopus - 32Web of Science - 26
2009Shi Z, Johnstone DM, Talseth-Palmer B, Evans T-J, Spigelman AD, Groombridge C, et al., 'Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age', International Journal of Cancer, 125 78-83 (2009) [C1]
DOI10.1002/ijc.24304
Co-authorsBente Talseth-Palmer, Liz Milward
2009Weidenhofer JC, Scott R, Tooney PA, 'Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: Effects of antipsychotic drugs', Journal of Psychiatric Research, 43 282-290 (2009) [C1]
DOI10.1016/j.jpsychires.2008.04.001
CitationsScopus - 6Web of Science - 6
Co-authorsJudith Weidenhofer, Paul Tooney
2009Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer', Gynecologic Oncology, 113 109-114 (2009) [C1]
DOI10.1016/j.ygyno.2008.12.036
CitationsScopus - 26Web of Science - 26
Co-authorsKatie Ashton, John Attia, Ian Symonds
2009Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association A: Background concepts', JAMA: Journal of the American Medical Association, 301 74-81 (2009) [C1]
DOI10.1001/jama.2008.901
CitationsScopus - 58Web of Science - 55
Co-authorsJohn Attia
2009Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association B: Are the results of the study valid?', JAMA: Journal of the American Medical Association, 301 191-197 (2009) [C1]
DOI10.1001/jama.2008.946
CitationsScopus - 85Web of Science - 84
Co-authorsJohn Attia
2009Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association C: What are the results and will they help me in caring for my patients?', JAMA: Journal of the American Medical Association, 301 304-308 (2009) [C1]
DOI10.1001/jama.2008.993
CitationsScopus - 41Web of Science - 37
Co-authorsJohn Attia
2009Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, et al., 'Genetic contribution to all cancers: The first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology', Breast Cancer Research and Treatment, 114 121-126 (2009) [C1]
DOI10.1007/s10549-008-9974-8
CitationsScopus - 6Web of Science - 6
2009Gapska P, Scott R, Serrano-Fernandez P, Huzarski T, Byrski T, Kladny J, et al., 'Vitamin D receptor variants and breast cancer risk in the Polish population', Breast Cancer Research and Treatment, 115 629-633 (2009) [C1]
DOI10.1007/s10549-008-0107-1
CitationsScopus - 10Web of Science - 10
2009Baines KJ, Simpson JL, Scott R, Gibson PG, 'Immune responses of airway neutrophils are impaired in asthma', Experimental Lung Research, 35 554-569 (2009) [C1]
DOI10.1080/01902140902777490
CitationsScopus - 14Web of Science - 15
Co-authorsKatherine Baines, Jodie Simpson, Peter Gibson
2009Simpson JL, Baines KJ, Boyle MJ, Scott R, Gibson PG, 'Oncostatin M (OSM) is increased in asthma with incompletely reversible airflow obstruction', Experimental Lung Research, 35 781-794 (2009) [C1]
DOI10.3109/01902140902906412
CitationsScopus - 9Web of Science - 11
Co-authorsJodie Simpson, Katherine Baines, Peter Gibson
2009Umapathy A, Whitehall V, Tran K, Grieu F, Hewitt C, Evans TJ, et al., 'A multicentre study to evaluate k-ras mutation testing methodologies in the clinical setting', JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 24 A240-A240 (2009) [E3]
Author URL
2009Reeves SG, Meldrum C, Groombridge C, Spigelman AD, Suchy J, Kurzawski G, et al., 'MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', European Journal of Human Genetics, 17 629-635 (2009) [C1]
DOI10.1038/ejhg.2008.239
2009Kaput J, Cotton RGH, Hardman L, Watson M, Aqeel AIA, Al-Aama JY, et al., 'Planning the Human Variome Project: The Spain report', Human Mutation, 30 496-510 (2009) [C1]
DOI10.1002/humu.20972
CitationsScopus - 32Web of Science - 29
2009Bahlo M, Booth DR, Broadley SA, Brown MA, Foote SJ, Griffiths LR, et al., 'Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20', Nature Genetics, 41 824-828 (2009) [C1]
DOI10.1038/ng.396
CitationsScopus - 268Web of Science - 224
Co-authorsPablo Moscato
2009Cotton RGH, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, et al., 'Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project', Genetics in Medicine, 11 843-849 (2009) [C1]
DOI10.1097/gim.0b013e3181c371c5
CitationsScopus - 24Web of Science - 21
2009Talseth-Palmer B, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, et al., 'A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology', Cytogenetic and Genome Research, 124 94-101 (2009) [C1]
DOI10.1159/000200093
CitationsScopus - 4Web of Science - 4
Co-authorsNikola Bowden, Bente Talseth-Palmer
2008Simpson JL, Powell H, Boyle MJ, Scott R, Gibson PG, 'Clarithromycin targets neutrophilic airway inflammation in refractory asthma', American Journal of Respiratory and Critical Care Medicine, 177 148-155 (2008) [C1]
DOI10.1164/rccm.200707-1134oc
CitationsScopus - 223Web of Science - 178
Co-authorsPeter Gibson, Jodie Simpson
2008Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin', Clinical Cancer Research, 14 1659-1668 (2008) [C1]
DOI10.1158/1078-0432.ccr-07-1422
CitationsScopus - 49Web of Science - 44
Co-authorsXu Zhang, Kelly Kiejda
2008Bowden NA, Scott R, Tooney PA, 'Altered gene expression in the superior temporal gyrus in schizophrenia', BMC Genomics, 9 1-12 (2008) [C1]
DOI10.1186/1471-2164-9-199
CitationsScopus - 32Web of Science - 32
Co-authorsNikola Bowden, Paul Tooney
2008Jakubowska A, Menkiszak J, Gorski B, Huzarski T, Byrski T, Benner A, et al., 'Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism', BMC Cancer, 8 1-5 (2008) [C1]
DOI10.1186/1471-2407-8-90
CitationsScopus - 4Web of Science - 4
2008Suchy J, Klujszo-Grabowska E, Kladny J, Cybulski C, Wokolorczyk D, Szymanska-Pasternak J, et al., 'Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk', BMC Cancer, 8 1-7 (2008) [C1]
DOI10.1186/1471-2407-8-112
CitationsScopus - 24Web of Science - 21
2008Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor', BMC Cancer, 8 1-6 (2008) [C1]
DOI10.1186/1471-2407-8-272
CitationsScopus - 7Web of Science - 6
Co-authorsJohn Attia, Katie Ashton, Ian Symonds
2008Dudding TE, Heron J, Thakkinstian A, Nurk E, Golding J, Pembrey M, et al., 'Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: A genetic association study and meta-analysis', Journal of Thrombosis and Haemostasis, 6 1868-1875 (2008) [C1]
DOI10.111/j.1538-7836.2008.03134.x
CitationsScopus - 31Web of Science - 5
Co-authorsJohn Attia
2008Talseth-Palmer B, Bowden NA, Hill A, Meldrum C, Scott R, 'Whole genome amplification and its impact on CGH array profiles', BMC Research Notes, 1 108 (2008) [C1]
DOI10.1186/1756-0500-1-56
CitationsScopus - 11
Co-authorsBente Talseth-Palmer, Nikola Bowden
2008Scott R, Crooks R, Meldrum C, 'Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome.', Human genetics, 124 300-300 (2008) [C3]
CitationsScopus - 2
2008Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, et al., 'Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation', American Journal of Human Genetics, 82 432-443 (2008) [C1]
DOI10.1016/j.ajhg.2007.11.002
CitationsScopus - 95Web of Science - 91
Co-authorsAnna Hackett
2008Foster RC, Byrnes EM, Meldrum C, Griffith R, Ross G, Upjohn E, et al., 'Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT', British Journal of Dermatology, 159 1160-1169 (2008) [C1]
DOI10.1111/j.1365-2133.2008.08827.x
CitationsScopus - 26Web of Science - 22
Co-authorsLeonie Ashman
2008Zlowocka E, Cybulski C, Gorski B, Debniak T, Slojewski M, Wokolorczyk D, et al., 'Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer', International Journal of Cancer, 122 583-586 (2008) [C1]
DOI10.1002/ijc.23099
CitationsScopus - 8Web of Science - 5
2008Talseth-Palmer B, Ashton KA, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', International Journal of Cancer, 122 1273-1277 (2008) [C1]
DOI10.1002/ijc.23177
CitationsScopus - 22Web of Science - 18
Co-authorsKatie Ashton, Bente Talseth-Palmer
2008Reeves SG, Rich D, Meldrum CJ, Colyvas KJ, Kurzawski G, Suchy J, et al., 'IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer', International Journal of Cancer, 123 1339-1343 (2008) [C1]
DOI10.1002/ijc.23668
CitationsScopus - 19Web of Science - 17
Co-authorsKim Colyvas
2008Burn J, Bishop T, Mecklin J-P, Macrae F, Moslein G, Olschwang S, et al., 'Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome', New England Journal of Medicine, 359 2567-2578 (2008) [C1]
DOI10.1056/NEJMoa0801297
CitationsScopus - 102Web of Science - 91
2008Jaworowska E, Serrano-Fernandez P, Tarnowska C, Lubinski J, Brzosko M, Flicinski J, et al., 'Familial association of laryngeal, lung, stomach and early-onset breast cancer', Breast Cancer Research and Treatment, 112 359-361 (2008) [C1]
DOI10.1007/s10549-007-9869-0
CitationsScopus - 1Web of Science - 1
2008Reeves SG, Mossman D, Meldrum CJ, Kurzawski G, Suchy J, Lubinski J, Scott R, 'The-149C > T SNP within the Delta DNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer', Cancer Letters, 265 39-44 (2008) [C1]
DOI10.1016/j.canlet.2008.02.005
CitationsScopus - 9Web of Science - 10
2008Jakubowska A, Gronwald J, Menklszak J, Gorski B, Huzarski T, Byrski T, et al., 'The VEGF_936_C > T 3 ' UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women', Cancer Letters, 262 71-76 (2008) [C1]
DOI10.1016/j.canlet.2007.11.029
CitationsScopus - 34Web of Science - 28
2008Debniak B, Kowalska E, Jakubowska A, Gronwald J, Wokolorczyk D, Maleszka R, et al., 'Common variants of DNA repair genes and malignant melanoma', European Journal of Cancer, 44 110-114 (2008) [C1]
DOI10.1016/j.ejca.2007.10.006
CitationsScopus - 20Web of Science - 18
2008Debniak T, Van De Wetering T, Scott R, Nagay L, Cybulski C, Gorski B, et al., 'Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland', European Journal of Cancer Prevention, 17 389-391 (2008) [C1]
DOI10.1097/cej.0b013e3282f75eb1
CitationsScopus - 9Web of Science - 7
2008Beveridge NJ, Tooney PA, Carroll AP, Gardiner EJ, Bowden NA, Scott R, et al., 'Dysregulation of miRNA 181b in the temporal cortex in schizophrenia', Human Molecular Genetics, 17 1156-1168 (2008) [C1]
DOI10.1093/hmg/ddn005
CitationsScopus - 167Web of Science - 161
Co-authorsPaul Tooney, Murray Cairns, Nikola Bowden
2008Scott R, 'Variable phenotypic expression in HNPCC and the search for modifier genes', European Journal of Human Genetics, 16 531-532 (2008) [C2]
DOI10.1038/ejhg.2008.46
CitationsWeb of Science - 4
2007Jaworowska E, Serrano-Fernandez P, Tarnowska C, Lubinski J, Kram A, Masojc B, et al., 'Clinical and epidemiological features of familial laryngeal cancer in Poland', Cancer Detection and Prevention, 31 270-275 (2007) [C1]
DOI10.1016/j.cdp.2006.06.007
CitationsScopus - 3Web of Science - 1
2007Bowden NA, Scott R, Tooney PA, 'Altered expression of regulator of G-protein signalling 4 (RGS4) mRNA in the superior temporal gyrus in schizophrenia', Schizophrenia Research, 89 165-168 (2007) [C1]
DOI10.1016/j.schres.2006.09.003
CitationsScopus - 33Web of Science - 36
Co-authorsPaul Tooney, Nikola Bowden
2007Attia JR, Thakkinstian A, Wang Y, Lincz L, Parsons MW, Sturm J, et al., 'The PAI-1 4G/5G gene polymorphism and ischemic stroke: An association study and meta-analysis', Journal of Stroke and Cerebrovascular Diseases, 16 173-179 (2007) [C1]
DOI10.1016/j.jstrokecerebrovasdis.2007.03.002
CitationsScopus - 31
Co-authorsChris Levi, Mark Parsons, John Attia, Lisa Lincz
2007Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'The RAD51 135 G > C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers', Cancer Epidemiology Biomarkers & Prevention, 16 270-275 (2007) [C1]
DOI10.1158/1055-9965.epi-06-0562
CitationsScopus - 47Web of Science - 47
2007Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, et al., 'Breast cancer susceptibility genes', Journal of the Balkan Union of Oncology, 12 S23-S29 (2007) [C1]
CitationsScopus - 5Web of Science - 6
2007Mhaidat NM, Zhang XD, Allen J, Kiejda KA, Scott R, Hersey P, 'Temozolomide induces senescence but not apoptosis in human melanoma cells', British Journal of Cancer, 97 1225-1233 (2007) [C1]
DOI10.1038/sj.bjc.6604017
CitationsScopus - 36Web of Science - 33
Co-authorsKelly Kiejda, Xu Zhang
2007Bowden NA, Croft A, Scott R, 'Gene expression profiling in familial adenomatous polyposis adenomas and desmoid disease', Hereditary Cancer in Clinical Practice, 5 79-96 (2007) [C1]
DOI10.1186/1897-4287-5-2-79
CitationsScopus - 4Web of Science - 4
Co-authorsNikola Bowden
2007Kairupan C, Scott R, 'Base excision repair and the role of MUTYH', Hereditary Cancer in Clinical Practice, 5 199-209 (2007) [C1]
DOI10.1186/1897-4287-5-4-199
CitationsScopus - 4Web of Science - 4
2007Scott R, 'Response to 'Variability in the clinical phenotype among families with HNPCC': The potential importance of the location of the mutation in the gene by Dr. Prathap Bandipalliant', International Journal of Cancer, 120 2278 (2007) [C3]
DOI10.1002/ijc.22347
2007Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'MDM2 SNP309 T > G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients', International Journal of Cancer, 120 563-565 (2007) [C1]
DOI10.1002/ijc.22339
CitationsScopus - 27Web of Science - 28
Co-authorsBente Talseth-Palmer
2007Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'Integrin 3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk', Journal of Medical Genetics, 44 408-411 (2007) [C1]
DOI10.1136/jmg.2006.047498
CitationsScopus - 11
2007Easton DF, Search Collaborators Including, Forbes JF, 'Genome-wide association study identifies novel breast cancer susceptibility loci', Nature, 447 1087-1093 (2007) [C1]
DOI10.1038/nature05887
CitationsScopus - 1342
Co-authorsJohn Forbes
2007Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer', Scandinavian Journal of Gastroenterology, 42 628-632 (2007) [C1]
DOI10.1080/00365520601106699
CitationsScopus - 10Web of Science - 9
Co-authorsBente Talseth-Palmer
2007Simpson JL, Grissell TV, Douwes J, Scott R, Boyle MJ, Gibson PG, 'Innate immune activation in neutrophilic asthma and bronchiectasis', Thorax, 62 211-218 (2007) [C1]
DOI10.1136/thx.2006.061358
CitationsScopus - 131Web of Science - 120
Co-authorsPeter Gibson, Jodie Simpson
2007Jakubowska A, Gronwald J, Menkiszak J, Go B, Huzarski T, Byrski T, et al., 'Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks', Breast Cancer Research and Treatment, 104 299-308 (2007) [C1]
DOI10.1007/s10549-006-9417-3
CitationsScopus - 30Web of Science - 29
2007Jakubowska A, Gronwald J, Gorski B, Huzarski T, Byrski T, Benner A, et al., 'The 3 ' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation', Breast Cancer Research and Treatment, 104 67-74 (2007) [C1]
DOI10.1007/s10549-006-9389-3
CitationsScopus - 9Web of Science - 10
2007Matyjasik J, Cybulski C, Masojc B, Jakubowska A, Serrano-Fernandez P, Gorski B, et al., 'CYP1B1 and predisposition to breast cancer in Poland', Breast Cancer Research and Treatment, 106 383-388 (2007) [C1]
DOI10.1007/s10549-007-9500-4
CitationsScopus - 12Web of Science - 9
2006Debniak T, Scott R, Masojc B, Serrano-Fernandez P, Huzarski T, Byrski T, et al., 'MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk', International Journal of Cancer, 119 2597-2602 (2006) [C1]
DOI10.1002/ijc.22210
CitationsScopus - 25Web of Science - 24
2006Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJP, et al., 'STKII status and intussusception risk in Peutz-Jeghers syndrome', Journal of Medical Genetics, 43 41-43 (2006) [C1]
DOI10.1136/jmg.2005.040535
CitationsWeb of Science - 17
2006Reeves SG, Meldrum C, Scott R, 'Re: IGF-1 gene polymorphism and risk for hereditary nonpolyposis colorectal cancer (Letter)', Journal of the National Cancer Institute, 98 1664-1665 (2006) [C3]
DOI10.1093/jnci/djj452
CitationsScopus - 5Web of Science - 4
2006Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Altered gene expression in the amygdala in schizophrenia: Up-regulation of genes located in the cytomatrix active zone', Molecular and Cellular Neuroscience, 31 243-250 (2006) [C1]
DOI10.1016/j.mcn.2005.09.013
CitationsScopus - 34Web of Science - 34
Co-authorsPaul Tooney, Nikola Bowden, Judith Weidenhofer
2006Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53', International Journal of Cancer, 118 2479-2484 (2006) [C1]
DOI10.1002/ijc.21661
CitationsScopus - 25Web of Science - 22
Co-authorsBente Talseth-Palmer
2006Lener MR, Oszutowska D, Castaneda J, Kurzawski G, Suchy J, Nej-Wolosiak K, et al., 'Prevalence of the NOD32 3020insC mutation in aggregations of breast and lung cancer', Breast Cancer Research and Treatment, 95 141-145 (2006) [C1]
DOI10.1007/s10549-005-9057-z
CitationsScopus - 13Web of Science - 14
2006Jaworowska E, Masojc B, Tarnowska C, Brzosko M, Flicinski J, Serrano-Fernandez P, et al., 'Association between early-onset breast and laryngeal cancers', Breast Cancer Research and Treatment, 97 215-219 (2006) [C1]
DOI10.1007/s10549-005-9116-5
CitationsScopus - 10Web of Science - 10
2006Debniak T, Scott R, Huzarski T, Byrski T, Masojc B, Van De Wetering T, et al., 'XPD common variants and their association with melanoma and breast cancer risk', Breast Cancer Research and Treatment, 98 209-215 (2006) [C1]
DOI10.1007/s10549-005-9151-2
CitationsScopus - 31Web of Science - 29
2006Masojc B, Mierzejewski M, Cybulski C, Van De Wetering T, Debniak T, Gorski B, et al., 'Cancer familial aggregation (CFA) and G446A polymorphism in ARLTS1 gene', Breast Cancer Research and Treatment, 99 59-62 (2006) [C1]
DOI10.1007/s10549-006-9180-5
CitationsScopus - 12Web of Science - 11
2006Dedniak T, Scott R, Huzarski T, Byrski T, Rozmiarek A, Debniak B, et al., 'CDKN2A common variant and multi-organ cancer risk - a population-based study (Short report)', International Journal of Cancer, 118 3180-3182 (2006) [C1]
DOI10.1002/ijc.21760
CitationsScopus - 14Web of Science - 10
2006Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'IL6 G-174C Associated With Sudden Infant Death Syndrome in a Caucasian Australian Cohort', Human Immunology, 67 819-825 (2006) [C1]
DOI10.1016/j.humimm.2006.07.010
CitationsScopus - 30Web of Science - 29
Co-authorsMaree Gleeson, Caroline Blackwell, Sharron Hall
2006Chow E, Meldrum CJ, Crooks R, Macrae FA, Spigelman AD, Scott RJ, 'An updated mutation spectrum in an Australian series of Peutz-Jeghers Syndrome patients provides further evidence for only one gene locus', JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 21 A262-A262 (2006)
Author URL
2006Bowden NA, Weidenhofer JC, Scott R, Schall U, Todd J, Michie PT, Tooney PA, 'Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia', Schizophrenia Research, 82 175-183 (2006) [C1]
DOI10.1016/j.schres.2005.11.012
CitationsScopus - 77Web of Science - 67
Co-authorsPaul Tooney, Pat Michie, Juanita Todd, Judith Weidenhofer, Nikola Bowden, Ulrich Schall
2006Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in asthma: Assessment and identification using induced sputum', Respirology, 11 54-61 (2006) [C1]
DOI10.1111/j.1440-1843.2006.00784.x
CitationsScopus - 245Web of Science - 223
Co-authorsJodie Simpson, Peter Gibson
2006Milne E, Van Bockxmeer FM, Robertson L, Brisbane JM, Ashton LJ, Scott R, Armstrong BK, 'Buccal DNA collection: Comparison of buccal swabs with FTA cards (short communication)', Cancer Epidemiology Biomarkers & Prevention, 15 816-819 (2006) [C1]
DOI10.1158/1055-9965.EPI-05-0753
CitationsScopus - 32Web of Science - 31
2006Ashton KA, Meldrum CJ, McPhillips ML, Suchy J, Kurzawski G, Lubinski J, Scott R, 'The association of the COMT V158M polymorphism with endometrial/ovarian cancer in HNPCC families adhering to the Amsterdam criteria', Hereditary Cancer in Clinical Practice, 4 94-102 (2006) [C1]
DOI10.1186/1897-4287-4-2-94
CitationsScopus - 2
Co-authorsKatie Ashton
2006Mossman D, Scott R, 'Epimutations, inheritance and causes of aberrant DNA methylation in cancer', Hereditary Cancer in Clinical Practice, 4 75-80 (2006) [C1]
DOI10.1186/1897-4287-4-2-75
CitationsScopus - 1
2006Bowden NA, Tooney PA, Scott R, 'Gene expression profiling of xeroderma pigmentosum', Hereditary Cancer in Clinical Practice, 4 103-110 (2006) [C1]
DOI10.1186/1897-4287-4-2-103
CitationsScopus - 1
Co-authorsNikola Bowden, Paul Tooney
2006Scott RJ, Moscovis SM, Hall ST, Gleeson M, Roberts-Thompson J, Blackwell CC, 'The influence of infection on cytokine gene polymorphisms in evolution', Before Farming, (2006) [C2]
2006Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients', Cancer Epidemiology Biomarkers & Prevention, 15 2307-2310 (2006) [C1]
DOI10.1158/1055-9965.EPI-06-0040
CitationsScopus - 16Web of Science - 13
Co-authorsBente Talseth-Palmer
2006Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJP, et al., 'Frequency and spectrum of cancers in the Peutz-Jeghers syndrome', Clinical Cancer Research, 12 3209-3215 (2006) [C1]
DOI10.1158/1078-0432.CCR-06-0083
CitationsScopus - 262Web of Science - 214
2006Weidenhofer J, Bowden NA, Scott RJ, Tooney PA, 'Dysfunction of genes regulating membrane exocytosis in schizophrenia', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY, 40 A129-A129 (2006)
Author URL
Co-authorsJudith Weidenhofer, Nikola Bowden, Paul Tooney
2006Kurzawski G, Suchy J, Lener M, Klujszo-Grabowska E, Kladny J, Safranow K, et al., 'Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)', Clinical Genetics, 69 40-47 (2006) [C1]
DOI10.1111/j.1399-0004.2006.00550.x
CitationsScopus - 17Web of Science - 20
2006Chow E, Meldrum CJ, Crooks R, Macrae F, Spigelman AD, Scott R, 'An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus', Clinical Genetics, 70 409-414 (2006) [C1]
DOI10.1111/j.1399-0004.2006.00704.x
CitationsScopus - 11Web of Science - 11
2006Suchy J, Kurzawski G, Jakubowska K, Rac ME, Safranow K, Kladny J, et al., 'Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers (letter)', Clinical Genetics, 70 68-70 (2006) [C3]
CitationsScopus - 5Web of Science - 5
2006Hitchins M, Suter C, Wong J, Cheong K, Hawkins N, Leggett B, et al., 'Germline epimutations of APC are not associated with inherited colorectal polyposis (Letter)', Gut, 55 586-587 (2006) [C3]
CitationsScopus - 10Web of Science - 9
2005Debniak T, Scott R, Huzarski T, Byrski T, Rozmiarek A, Debniak B, et al., 'CDKN2A common variants and their association with melanoma risk: A population-based study', Cancer Research, 65 835-839 (2005) [C1]
CitationsScopus - 41Web of Science - 39
2005Hitchins M, Williams R, Cheong K, Halani N, Lin VAP, Packham D, et al., 'MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer', Gastroenterology, 129 1392-1399 (2005) [C1]
DOI10.1053/j.gastro.2005.09.003
CitationsScopus - 118Web of Science - 104
2005Weir L, Spigelman AD, Scott R, Kirk J, Zeckendorf S, Sitas F, 'The NSW & ACT Hereditary Cancer Registers', Australian Family Physician, 34 53-57 (2005) [C3]
CitationsScopus - 1
2005Blackwell CC, Moscovis SM, Gordon AE, Al Madani OM, Hall S, Gleeson M, et al., 'Cytokine responses and sudden infant death: genetic, developmental, and environmental risk factors', Journal of Leukocyte Biology, 78 1242-1254 (2005) [C1]
DOI10.1189/jlb.0505253
CitationsScopus - 54Web of Science - 50
Co-authorsSharron Hall, Maree Gleeson, Caroline Blackwell
2005Bains KJ, Bell NV, Simpson JL, Scott RJ, Boyle MJ, Gibson PG, 'Enhanced IL-8 Release front Neutrophils in Non-Eosinophilic Asthma', INFLAMMATION RESEARCH, 54 S137-S137 (2005)
Author URL
Co-authorsPeter Gibson, Jodie Simpson
2005Gronwald J, Jauch A, Cybulski C, Schoell B, Bohm-Steuer B, Lener M, et al., 'Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization', International Journal of Cancer, 114 230-236 (2005) [C1]
DOI10.1002/ijc.20723
CitationsScopus - 22Web of Science - 19
2005Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Differential proteolytic enzyme activity in eosinophilic and neutrophilic asthma', American Journal of Respiratory and Critical Care Medicine, 172 559-565 (2005) [C1]
DOI10.1164/rccm.200503-369OC
CitationsScopus - 94Web of Science - 85
Co-authorsPeter Gibson, Jodie Simpson
2005Weber W, Scott R, 'Case report: Familial gastric cancer and chordoma in the same family', Hereditary Cancer in Clinical Practice, 3 81-84 (2005) [C2]
CitationsScopus - 1Web of Science - 1
2005McPhillips M, Meldrum CJ, Scott R, Creegan R, Edkins E, 'Deletion mutations in an Australian series of HNPCC patients', Hereditary Cancer in Clinical Practice, 3 43-47 (2005) [C2]
CitationsScopus - 1Web of Science - 1
2005Ashton KA, Meldrum CJ, McPhillips ML, Kairupan CF, Scott R, 'Frequency of the common MYH mutations (G382D and Y165C) in MMR mutation positive and negative HNPCC patients', Hereditary Cancer in Clinical Practice, 3 65-70 (2005) [C1]
DOI10.1186/1897-4287-3-2-65
CitationsScopus - 9Web of Science - 8
Co-authorsKatie Ashton
2005Scott R, Meldrum C, 'Missense mutations in cancer predisposing genes: can we make sense of them?', Hereditary Cancer in Clinical Practice, 3 123-127 (2005) [C1]
DOI10.1186/1897-4287-3-3-123
2004Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, et al., 'Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35', American Journal of Human Genetics, 75 161-173 (2004) [C1]
DOI10.1086/422475
CitationsScopus - 114Web of Science - 111
2004Kurzawski G, Suchy J, Lubinski J, Scott RJ, 'NOD2 and colorectal cancer: Guilt by non-association - Response', CANCER RESEARCH, 64 5525-5526 (2004)
Author URL
2004Kurzawski G, Suchy J, Kladny J, Grabowska E, Mierzejewski M, Jakubowska A, et al., 'The NOD2 3020insC Mutation and the Risk of Colorectal Cancer', Cancer Research, 64 1604-1606 (2004) [C1]
DOI10.1158/0008-5472.CAN-03-3791
CitationsScopus - 65Web of Science - 58
2004Kurzawski G, Suchy J, Lubinski J, Scott R, 'NOD2 and colorectal cancer: guilt by non-association', Cancer Research, 64 5525-5526 (2004) [C1]
CitationsScopus - 1
2004Scott R, Meldrum CJ, 'Response to De Vos et al', Clinical Genetics, 66 568 (2004) [C3]
2004Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas LS, Spigelman AD, Scott R, 'Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations', Clinical Genetics, 65 215-225 (2004) [C1]
DOI10.1111/j.1399-0004.2004.00214.x
CitationsScopus - 33Web of Science - 29
2004Lim W, Olschwang S, Keller J, Westerman A, Menko F, Boardman L, et al., 'Relative frequency and morphology of cancers in STK11 mutation carriers', Gastroenterology, 126 1788-1794 (2004) [C1]
DOI10.1053/j.gastro.2004.03.014
CitationsScopus - 117Web of Science - 99
2004Debniak T, Gorski B, Scott R, Cybulski C, Medrek K, Zlowocka E, et al., 'Germline Mutation and Large Deletion Analysis of the CDKN2A and ARF Genes in Families with Multiple Melanoma or an Aggregation of Maligant Melanoma and Breast Cancer', International Journal of Cancer, 110 558-562 (2004) [C1]
DOI10.1002/ijc.20163
CitationsScopus - 21Web of Science - 18
2004Smith CJ, Crock PA, King BR, Meldrum CJ, Scott R, 'Phenotype-Genotype Correlations in a Series of Wolfram Syndrome Families', Diabetes Care, 27 2003-2009 (2004) [C1]
DOI10.2337/diacare.27.8.2003
CitationsScopus - 42Web of Science - 35
Co-authorsBruce King
2004Scott R, 'DNA mismatch repair genes and hereditary non-polyposis colorectal cancer', J Gastro Hepatol, 19 465-466 (2004) [C1]
DOI10.1111/j.1440-1746.2004.03425.x
2004Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'Interleukin-10 and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 130-138 (2004) [C1]
DOI10.1016/j.femsim.2004.06.020
CitationsScopus - 32Web of Science - 29
Co-authorsMaree Gleeson, Sharron Hall, Caroline Blackwell
2004Moscovis SM, Gordon AE, Hall ST, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'Interleukin 1-b responses to bacterial toxins and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 139-145 (2004) [C1]
DOI10.1016/j.femsim.2004.06.005
CitationsScopus - 26Web of Science - 23
Co-authorsMaree Gleeson, Sharron Hall, Caroline Blackwell
2004Blackwell CC, Moscovis SM, Gordon AE, Al Madani OM, Hall ST, Gleeson M, et al., 'Ethnicity, infection and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 53-65 (2004) [C1]
DOI10.1016/j.femsim.2004.06.007
CitationsScopus - 30Web of Science - 21
Co-authorsSharron Hall, Maree Gleeson, Caroline Blackwell
2004Spigelman AD, Burgess BT, Groombridge C, Scott R, 'Genetic testing: a round table conversation', Internal Medicine Journal, 34 587-588 (2004) [C1]
DOI10.1111/j.1445-5994.2004.00679.x
2004Scott R, Ashton KA, 'Familial breast and bowel cancer: Does it exist?', Hereditary Cancer in Clinical Practice, 2 25-59 (2004) [C1]
DOI10.1186/1897-4287-2-1-25
Co-authorsKatie Ashton
2004Scott R, 'DNA Double Strand Break Repair and its Association with Inherited Predispositions to Breast Cancer', Hereditary Cancer in Clinical Practice, 2 37-43 (2004) [C1]
DOI10.1186/1897-4287-2-1-37
2004Gawdis-Wojnarska B, Brzoska M, Flicinski J, Marlicz K, Starzynska T, Scott R, Lubinski J, 'Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Gastric Cancer', Hereditary Cancer in Clinical Practice, 2 65-68 (2004) [C1]
DOI10.1186/1897-4287-2-2-65
2004Scott R, Crooks R, Rose L, Attia JR, Thakkinstian A, Thomas L, et al., 'Germline Missense Changes in the APC Gene and Their Relationship to Disease', Hereditary Cancer in Clinical Practice, 2 81-91 (2004) [C1]
DOI10.1186/1897-4287-2-2-81
Co-authorsJohn Attia
2004Liu X, Sinn H-P, Ulmer HU, Scott R, Hamann U, 'Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families', Hereditary Cancer in Clinical Practice, 2 139-145 (2004) [C1]
DOI10.1186/1897-4287-2-3-139
2003Meldrum CJ, McPhillips M, Crooks R, Thomas L, Edkins T, Creegan R, et al., 'A comparison between denaturing gradient gel electrophoresis and denaturing high performance liquid chromatography in detecting mutations in genes associated with hereditary non-polyposis colorectal cancer (HNPCC) and the identification of 9 new mutations previously unidentified by DGGE', Hereditary Cancer in Clinical Practice, 1 39-48 (2003) [C1]
DOI10.1186/1897-4287-1-1-39
2003Gorski B, Debniak T, Mosojc B, Mierzejewski M, Medrek K, Cybulski C, et al., 'Germline 657del5 mutation in the NBS1 gene in breast cancer patients', International Journal of Cancer, 106 379-381 (2003) [C1]
DOI10.1002/ijc.11231
CitationsScopus - 55Web of Science - 56
2003Lubinski W, Kurzawski G, Suchy J, Szych Z, Penkala K, Palacz O, et al., 'Electro-Oculographic and Electroretinographic Studies in HNPCC Gene Mutation Carriers', Ophthalmic Research, 35 281-294 (2003) [C1]
DOI10.1159/000072149
CitationsScopus - 1
2003Jakubowska A, Scott R, Menkiszak J, Gronwald J, Byrski T, Huzarski T, et al., 'A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer', European Journal of Human Genetics, 11 955-958 (2003) [C1]
DOI10.1038/sj.ejhg.5201064
CitationsScopus - 20Web of Science - 16
2002Scott R, Crooks R, Meldrum C, Thomas L, Smith C, Mowat D, et al., 'Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients', Clinical Genetics, 62 282-287 (2002) [C1]
CitationsScopus - 36Web of Science - 33
2002Scott R, Vajdic C, Armstrong B, Ainsworth C, Meldrum C, Aitken J, Kricker A, 'BRCA2 Mutations in a Population-Based Series of Patients with Ocular Melanoma', International Journal of Cancer, 102 188-191 (2002) [C1]
CitationsScopus - 25
2002Niu J, Dorahy DJ, Gu X, Scott R, Draganic B, Ahmed N, Agrez MV, 'Integrin expression in colon cancer cells is regulated by the cytoplasmic domain of the 6 integrin subunit', International Journal of Cancer, 99(4) 529-537 (2002) [C1]
CitationsScopus - 27Web of Science - 24
2002Hamann U, Liu X, Lange S, Ulmer H, Benner A, Scott R, 'Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany', Journal of Medical Genetics, 39:e12 1 of 6 (2002) [C1]
2002Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott R, Lubinski J, 'Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography', Journal of Biochemical and Biophysical Methods, 51 89-100 (2002) [C1]
CitationsScopus - 40Web of Science - 40
2002Ward R, Meldrum C, Williams R, Mokany E, Scott R, Turner J, et al., 'Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer', Journal of Cancer Research and Clinical Oncology, 128(8) 403-411 (2002) [C1]
DOI10.1007/s00432-002-0361-2
CitationsScopus - 24Web of Science - 20
2002Ahmed N, Niu J, Dorahy DJ, Gu X, Andrews S, Meldrum C, et al., 'Direct integrin v 6-ERK binding: implications for tumour growth', Oncogene, 21 1370-1380 (2002) [C1]
DOI10.1038/sj.onc.1205286
CitationsScopus - 58Web of Science - 54
2002Jukubowska A, Nej K, Huzarski T, Scott R, Lubinski J, 'BRCA2 gene mutations in families with aggregations of breast and stomach cancers', British Journal of Cancer, 87 888-891 (2002) [C1]
CitationsWeb of Science - 38
2002Gu X, Niu J, Dorahy D, Scott R, Agrez M, 'Integrin av/B6-associated ERK2 mediates MMP-9 secretion in colon cancer cells', British Journal of Cancer, 87 348-351 (2002) [C1]
CitationsScopus - 26Web of Science - 24
2001Meldrum CJ, Crooks R, Scott RJ, 'D-HPLC detection of APC mutations.', AMERICAN JOURNAL OF HUMAN GENETICS, 69 269-269 (2001)
Author URL
2001Scott R, McPhillips M, Meldrum C, Fitzgerald P, Adams K, Spigelman A, et al., 'Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds', American Journal of Human Genetics, 68 118-127 (2001) [C1]
DOI10.1086/316942
2001Scott R, 'Reply to Vasen et al', American Journal of Human Genetics, 68 1534-1535 (2001) [C3]
2001Thompson D, Easton D, Breast Cancer Linkage Consortium Bclc, Scott R, 'Variation in cancer risks, by mutation position, in BRCA2 mutation carriers', American Journal of Human Genetics, 68 410-419 (2001) [C1]
2001Scott R, McPhillips M, Meldrum C, Fitzgerald P, Adams K, Spigelman AD, et al., 'Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds', The American Journal of Human Genetics, 68 118-127 (2001) [C1]
CitationsScopus - 134Web of Science - 124
2001Guldenschuh I, Hurlimann R, Muller A, Ammann R, Mullhaupt B, Dobbie Z, et al., 'Relationship between APC Genotype, Polyp Distribution and Oral Sulindac Treatment in the Colon and Rectum of Patients with Familial Adenomatous Polyposis', Diseases of the Colon and Rectum, 44 1090-1099 (2001) [C1]
CitationsScopus - 22Web of Science - 5
2001Scott R, Meldrum C, Crooks R, Spigelman A, Kirk J, Tucker K, et al., 'Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity', Gut, 48 508-514 (2001) [C1]
CitationsScopus - 30Web of Science - 21
2001Jakubowska A, Grski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, et al., 'Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome', Human Mutation, 18 141-148 (2001)

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCRSSCP analysis of each of the 51 exons with flanking intronic sequences in 81 patients suspected of X-linked Alport syndrome including 29 clear X-linked cases, 37 cases from families with a pedigree compatible with X-linked inheritance, and 15 isolated cases. We found a mutation detection rate of 52% (42/81) (58% in males and 21% in females), and 69% (20/29) in families who clearly demonstrated X-linked inheritance. Thirty-six different mutations were found in 42 patients comprising 16 missense mutations, seven frameshifts, three in-frame deletions, four nonsense mutations, and six splice site mutations. Twenty-two of the mutations have not previously been reported. Furthermore, we found one non-pathogenic amino acid substitution, one rare variant in a noncoding region, and one polymorphism with a heterozygosity of 28%. Three de novo mutations were found, two of which were paternal and one of maternal origin. © 2001 Wiley-Liss, Inc.

DOI10.1002/humu.1163
CitationsScopus - 22
2001Jakubowska A, Gorski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, et al., 'Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes', Human Mutation, 17 52-60 (2001) [C1]
CitationsScopus - 16Web of Science - 14
2001Jakubowska A, Gorski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, et al., 'Detection of germline mutations in the BRCA1 gene by RNA-based sequencing', Human Mutation, 18 149-156 (2001) [C1]
CitationsWeb of Science - 15
2001Humar B, Muller H, Scott R, 'Cell cycle dependent DNA break increase in ataxia telangiectasia lymphoblasts after radiation exposure', Molecular Pathology, 54 347-350 (2001) [C1]
CitationsScopus - 4Web of Science - 5
2001Connor JR, Milward EA, Moalem S, Sampietro M, Boyer P, Percy ME, et al., 'Is hemochromatosis a risk factor for Alzheimer''s disease?', Journal of Alzheimer''s Disease, 3 471-477 (2001) [C1]
CitationsScopus - 59
Co-authorsLiz Milward
2001Nasioulas S, Jones I, Stjohn D, Scott R, Forrest S, Gardner R, 'Profuse familial adenomatous polyposis with an APC exon 3 mutation', Familial Cancer, 1 3-7 (2001) [C1]
CitationsScopus - 5
2000Rosell R, Abad A, Scott RJ, Spigelman AD, Iacopetta B, Elsaleh H, et al., 'Tumour site, sex, and survival in colorectal cancer [9] (multiple letters)', Lancet, 356 857-858 (2000)
CitationsScopus - 4
2000Scott R, Spigelman AD, 'Tumour site, sex, and survival in colorectal cancer', The Lancet, 356 857 (2000) [C3]
2000Ritz M, Lechner-Scott J, Scott R, Fuhr P, Malik N, Erne B, et al., 'Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies', Journal of Neuroimmunology, 104 155-163 (2000) [C1]
CitationsScopus - 51Web of Science - 42
2000Lakhani S, Gusterson B, Jacquemier J, Sloane J, Anderson T, Van De Vijver M, et al., 'The Pathology of Familial Breast Cancer: Histological Features of Cancers in Families Not Attributable to Mutations in BRCA1 or BRCA21', Clinical Cancer Research, 6 782-789 (2000) [C1]
CitationsScopus - 150
1999Heinimann K, Scott RJ, Chappuis P, Weber W, Muller H, Dobbie Z, Hutter P, 'N-acetyltransferase 2 influences cancer prevalence in hMLH1/hMSH2 mutation carriers', CANCER RESEARCH, 59 3038-3040 (1999)
Author URL
CitationsWeb of Science - 32
1999Scott RJ, Sobol HH, 'Prognostic implications of cancer susceptibility genes: any news?', Recent results in cancer research. Fortschritte der Krebsforschung. Progrès dans les recherches sur le cancer, 151 71-84 (1999)

Recent advances in our understanding of the genetic basis of several inherited predispositions to cancer have raised the possibility that there may be differences in prognosis between patients harbouring genetic susceptibilities to cancer and persons presenting with sporadic disease. The two best studied models of inherited susceptibilities to cancer will be considered, those of colorectal cancer and familial breast cancer. Familial colorectal cancer can be subdivided into essentially two groups: familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Familial breast cancer can be subdivided into three groups: those that can be accounted for by mutations in the breast cancer susceptibility gene BRCA 1, families harbouring mutations in BRCA 2 and families where neither BRCA 1 nor BRCA 2 appear to be involved. In this chapter several aspects of these inherited cancer predispositions will be discussed and compared with their equivalent sporadic disease counterparts.

CitationsScopus - 4
1998Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, et al., 'Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study', American Journal of Human Genetics, 62 1381-1388 (1998)

Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of the individual mutations are estimated to have arisen 400-2,000 years ago. In particular, the 6174delT mutation, found in ~1% of individuals of Ashkenazi Jewish ancestry, was estimated to have arisen 29 generations ago (1-LOD support interval 22-38). This is substantially more recent than the estimated age of the BRCA1 185delAG mutation (46 generations), derived from our analogous study of BRCA1 mutations. In general, there was no evidence of multiple origins of identical BRCA2 muta- tions. Our study data were consistent with the previous report of a higher incidence of ovarian cancer in families with mutations in a 3.3-kb region of exon 11 (the ovarian cancer cluster region [OCCR]) (P = .10); but that higher incidence was not statistically significant. There was significant evidence that age at diagnosis of breast cancer varied by mutation (P < .001), although only 8% of the variance in age at diagnosis could be explained by the specific mutation, and there was no evidence of family-specific effects. When the age at diagnosis of the breast cancer cases was examined by OCCR, cases associated with mutations in the OCCR had a significantly older mean age at diagnosis than was seen in those outside this region (48 years vs. 42 years; P = .0005).

DOI10.1086/301885
CitationsScopus - 108
1998Heinimann K, Mullhaupt B, Weber W, Attenhofer M, Scott RJ, Fried M, et al., 'Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status', GUT, 43 675-679 (1998)
Author URL
CitationsScopus - 50Web of Science - 46
1997Garvin AM, Attenhofer-Haner M, Scott RJ, 'BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients', Journal of Medical Genetics, 34 990-995 (1997)

Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncation test (PTT). Nine germline mutations were identified, six in BRCA1 and three in BRCA2. Of the six BRCA1 mutations, three have previously been described and three are new, and for BRCA2, one is a new mutation and the other two appear to occur at a site that has been described several times. Four kindreds were breast cancer families, one a breast/ovarian cancer family, and the sixth an ovarian cancer family. The three kindreds with BRCA2 mutations were classified as one breast/ovarian cancer family, one breast cancer family, and one family which harboured one early onset breast cancer patient and two melanoma patients. The mutations in BRCA1 were either insertions, deletions, or transitions which all resulted in a premature stop codon. Mutations in BRCA2 were all frameshift mutations as a result of either 2 or 4 bp deletions. Two BRCA2 mutations were identical, suggesting a Swiss founder effect which was confirmed by haplotype sharing. The 10% mutation detection rate is compatible with the relaxed criteria used for patient selection. Considering the relative ease with which coding sequences can be screened by PTT, this assay is useful as a first screen for BRCA1 and BRCA2 mutations.

CitationsScopus - 7
1989COCKBURN J, HENNRIKUS D, SCOTT R, SANSONFISHER R, 'ADOLESCENT USE OF SUN-PROTECTION MEASURES', MEDICAL JOURNAL OF AUSTRALIA, 151 136-140 (1989)
Author URL
CitationsScopus - 85Web of Science - 103
Co-authorsRob Sanson-Fisher
Show 350 more journal articles

Conference (186 outputs)

YearCitationAltmetricsLink
2015Ibrahim EC, Bergon A, Belzeaux R, Comte M, Pelletier F, Herve M, et al., 'Transcriptome Analyses of Human Brain and Blood Tissues Converge to Dysregulated Expression of CX3CR1', BIOLOGICAL PSYCHIATRY, Toronto, CANADA (2015)
Author URL
Co-authorsPaul Tooney, Brian Kelly, Murray Cairns
2015Lumbers ER, Grimson S, Cox AJ, Pringle KJ, Burns C, Blackwell CC, Scott RJ, 'THE DISTRIBUTION OF SOME SINGLE NUCLEOTIDE POLYMORPHISMS OF THE RENIN-ANGIOTENSIN SYSTEM IN INDIGENOUS AUSTRALIANS', HYPERTENSION, Adelaide, AUSTRALIA (2015)
Author URL
Co-authorsKirsty Pringle
2014Morten B, Campbell HG, Brown MW, Mathe A, Braithwaite AW, Scott RJ, Kiejda KA, '¿40p53 regulation of estrogen responsiveness in breast cancer.', 16th International p53 Workshop Proceedings, Stockholm, Sweden (2014) [E3]
Co-authorsKelly Kiejda, Michelle Wong-Brown
2014Morten B, Scott RJ, Kiejda KA, 'The role of ¿40p53 and p53 in Estrogen-Receptor-a signaling pathways in breast cancer.', 23rd Biennial Congress of the European Association for Cancer Research Proceedings Book, Munich, Germany (2014) [E3]
Co-authorsKelly Kiejda
2014Morten B, Campbell HG, Wong-Brown MW, Mathe A, Braithwaite AW, Scott RJ, Avery-Kiejda KA, 'Delta-40P53 regulation of ERa-mediated signalling in breast cancer.', The 29th International Association for Breast Cancer Research Conference Proceedings, Manly, NSW, Australia (2014) [E3]
Co-authorsKelly Kiejda
2014Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Can microRNAs impact cell migration in triple negative breast cancer?', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme, Newcastle, NSW, Australia (2014) [E3]
Co-authorsJohn Forbes, Kelly Kiejda
2014Morten B, Scott RJ, Avery-Kiejda KA, '¿40p53 and p53 mediate ER-a expression in breast cancer cells.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme, Newcastle, NSW, Australia (2014) [E3]
Co-authorsKelly Kiejda
2014Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Avery-Kiejda KA, Scott RJ, 'Short tandem repeats are variable genetic elements that may have major consequences for multiple diseases.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme, Newcastle, NSW, Australia (2014)
Co-authorsLiz Holliday, Nikola Bowden, Kelly Kiejda
2014Avery-Kiejda KA, Morten B, Wong-Brown MW, Mathe A, Scott RJ, 'The relationship between p53 isoforms and prognosis in breast cancer.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme, Newcastle, NSW, Australia (2014) [E3]
Co-authorsKelly Kiejda, Michelle Wong-Brown
2014Budden T, Davey RJ, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'Repair of UVB-induced DNA damage is reduced in melanoma due to attenuated XPC and global genome repair.', Proceedings of the Inaugural EMBL Australia PhD Symposium, Sydney, NSW, Australia (2014) [E3]
Co-authorsNikola Bowden, Katie Ashton
2014Lumbers ER, Grimson S, Cox A, Pringle KG, Burns C, Blackwell CC, Scott R, 'The distribution of some nucleotide polymorphisms of the renin-angiotensin system in Indigenous Australians.', State of Heart 2014 Congress, Adelaide, SA, Australia (2014) [E3]
Co-authorsCaroline Blackwell, Kirsty Pringle
2014Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Kiejda KA, Scott RJ, 'Short tandem repeats are variable genetic elements that may have major consequences for multiple diseases.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme, Newcastle, NSW, Australia (2014) [E3]
Co-authorsLiz Holliday, Nikola Bowden, Kelly Kiejda
2014Sanders KA, Lea RA, Agland SE, Scott RJ, Lechner-Scott J, Tajouri L, 'Next generation sequencing of microRNA in the CD4+T-cells of secondary progressive multiple sclerosis individuals', MULTIPLE SCLEROSIS JOURNAL, Boston, MA (2014) [E3]
Author URL
2014Graves MC, Benton M, Lea R, Macartney D, Tajouri L, Scott RJ, Lechner-Scott J, 'Epigenetic changes in CD8(+) T cells and CD19(+) B cells isolated from relapsing/remitting multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL, Boston, MA (2014) [E3]
Author URL
2014Baines K, Simpson J, Wood L, Scott R, Fibbens N, Powell H, et al., 'SPUTUM GENE EXPRESSION OF SIX MARKERS IDENTIFIES ASTHMA INFLAMMATORY PHENOTYPE AND CORTICOSTEROID RESPONSE', RESPIROLOGY (2014) [E3]
Author URL
Co-authorsKatherine Baines, Jodie Simpson, Lisa Wood
2014Mather KA, Thalamuthu A, Oldmeadow C, Song F, Armstrong NJ, Poljak A, et al., 'Genome-wide significant results identified for plasma apolipoprotein h levels', Alzheimer's & Dementia (2014) [E3]
DOI10.1016/j.jalz.2014.05.1526
Co-authorsPeter Schofield, Christopher Oldmeadow, John Attia, Liz Holliday
2014Chouraki VA, Jakobsdottir J, Mather K, Adams H, Mollon J, Oldmeadow C, et al., 'A genome-wide meta-analysis of plasma clusterin levels in the charge consortium', Alzheimer's & Dementia, Washington, DC (2014) [E3]
DOI10.1016/j.jalz.2014.05.1159
Co-authorsJohn Attia, Liz Holliday, Christopher Oldmeadow
2014Gedye C, Sirskyj D, Hyatt E, Lobo N, Lourenco C, Evans A, et al., 'MESENCHYMAL DIFFERENTIATION PROGRAMS GOVERN VHL-MUTANT CLEAR CELL RENAL CANCER BIOLOGY', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
2014Koegelenberg AM, Dean S, Meagher NS, Caruso L, Goode S, Pillai U, et al., 'CLOSING THE GAP BETWEEN RESEARCH, BIOBANKS AND CLINICAL PRACTICE: A 12 MONTH EXPLORATORY STUDY INTO DEVELOPING A STANDARD PRE-OPERATIVE MODEL FOR OBTAINING BIOBANK CONSENT', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
2014Meagher NS, Dean S, Koegelenberg A, Goode S, Caruso L, Pillai U, et al., 'INTEGRATING UNIVERSAL CONSENT FOR BIOBANKING AND HEALTH DATA COLLECTION WITHIN CLINICAL PATHWAYS IN NSW - THE BSN CONSENT PROJECT', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
2014Mathe A, Avery-Kiejda KA, Wong-Brown M, Morten B, Forbes JF, Braye SG, Scott RJ, 'IDENTIFICATION OF NOVEL TRANSCRIPTS SPECIFIC TO TRIPLE NEGATIVE BREAST CANCER THAT ARE ASSOCIATED WITH LYMPH NODE METASTASIS', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
DOI10.1111/ajco.12335Author URL
Co-authorsMichelle Wong-Brown, Kelly Kiejda, John Forbes
2014Morten B, Scott RJ, Avery-Kiejda KA, 'Delta 40P53 CAN ALTER BREAST CANCER CELL GROWTH BY MEDIATING THE ESTROGEN RESPONSE', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsKelly Kiejda
2014Delforce SJ, Pringle KG, Wang Y, Verrills NM, Scott RJ, Lumbers ER, 'THE FUNCTIONAL ROLE OF THE ENDOMETRIAL RENIN ANGIOTENSIN SYSTEM IN ENDOMETRIAL CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsKirsty Pringle, Nikki Verrills
2014Ackland SP, Scott RJ, Moscato P, Ovchinkova L, 'A PLATFORM FOR PHARMACOGENOMIC ANALYSIS OF ADVERSE DRUG REACTIONS IN CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsStephen Ackland, Pablo Moscato
2014Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A HIGHLY POLYMORPHIC AG REPEAT IN THE UPSTREAM REGULATORY REGION OF THE ESTROGEN-INDUCED GENE EIG121 IS A POTENTIAL MODIFIER OF ENDOMETRIAL CANCER RISK', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsNikola Bowden, Liz Holliday, Kelly Kiejda, John Attia
2014Davey RJ, Budden T, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'REPAIR OF UVB-INDUCED DNA DAMAGE IS REDUCED IN MELANOMA DUE TO ATTENUATED XPC AND GLOBAL GENOME REPAIR', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsNikola Bowden, Katie Ashton
2014Guo ST, Chi MN, Yang RH, Guo XY, Wang CY, Zan LQ, et al., 'INOSITOL POLYPHOSPHATE 4-PHOSPHATASE II PROMOTES PI3K SIGNALING AND FUNCTIONS AS AN ONCOGENIC REGULATOR IN HUMAN COLON CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Author URL
Co-authorsXu Zhang, Rick Thorne, Stephen Ackland
2014Maguire J, Lindgren A, Bevan S, Fernandez-Cadenas I, Hankey G, Jern C, et al., 'GISCOME - Genetic Influences on Ischaemic Stroke Functional Outcome: A genome wide association study', INTERNATIONAL JOURNAL OF STROKE (2014) [E3]
Author URL
Co-authorsChris Levi, Jane Maguire
2014Pan X, Smith R, Scott RJ, Fitter J, Zakar T, 'Corticotropin Releasing Hormone (CRH) Expression Is Controlled by DNA Methylation in the Trophoblast', REPRODUCTIVE SCIENCES (2014) [E3]
Author URL
Co-authorsRoger Smith, John Fitter
2014Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Eight microRNAs as biomarkers for metastatic spread in triple negative breast cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Author URL
Co-authorsJohn Forbes, Kelly Kiejda, Michelle Wong-Brown
2014Morten B, Scott RJ, Avery-Kiejda KA, 'The role of Delta-40p53 and p53 in Estrogen Receptor-alpha signalling pathways in breast cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Author URL
Co-authorsKelly Kiejda
2014Talseth-Palmer BA, Evans TJ, Spigelman A, Scott RJ, 'Targeted next-generation sequencing - Identification of Lynch syndrome cases', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Author URL
Co-authorsBente Talseth-Palmer
2014Bolton KA, Holliday EG, Bowden NA, Avery-Kiejda KA, Scott RJ, 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is a modifier of disease risk in endometrial cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Author URL
Co-authorsLiz Holliday, Nikola Bowden, Kelly Kiejda
2014Davey RJ, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'XPC expression is associated with BRAFV600E and NRASQ61R mutations and poor survival in melanoma.', ASMR Satellite scientific meeting proceedings, Newcastle, NSW, Australia (2014) [E3]
Co-authorsKatie Ashton, Nikola Bowden
2014Wong-Brown M, Scott RJ, 'Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer', Abstract booklet, Kingscliff (2014) [E3]
Co-authorsMichelle Wong-Brown
2014Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen gene EIG121 is a potential modifier of endometrial cancer risk.', Asia-Pacific Journal of Clinical Oncology, Newcastle, NSW, Australia (2014) [E3]
DOI10.1111/ajco.12335
Co-authorsJohn Attia, Kelly Kiejda, Liz Holliday, Nikola Bowden
2013Zotenko E, Stirzaker C, Song JZ, Qu W, Nair S, Avery-Kiejda KA, et al., 'Genome-wide DNA methylation analysis of archival formalin-fixed paraffin-embedded tissue (FFPET) using MDBCAP-Seq identifies novel epigenetic diagnostic biomarker loci in breast cancer.', 25th Lorne Cancer Conference Proceedings, Lorne, VIC, Australia (2013) [E3]
Co-authorsKelly Kiejda
2013Morten B, Mathe A, Scott RJ, Avery-Kiejda KA, 'mRNA expression analysis of p53 isoforms in breast cancer.', 25th Lorne Cancer Conference Proceedings, Lorne, VIC, Australia (2013) [E3]
Co-authorsKelly Kiejda
2013Avery-Kiejda KA, Mathe A, Braye SG, Forbes JF, Scott RJ, 'The expression of Dicer and Drosha in lymph node metastases of triple negative breast cancer.', 25th Lorne Cancer Conference Proceedings, Lorne, VIC, Australia (2013) [E3]
Co-authorsKelly Kiejda, John Forbes
2013Mathe A, Avery-Kiejda KA, Wong-Brown MW, Forbes JF, Braye SG, Scott RJ, 'Target gene identification of microRNAs associated with lymph node metastases in triple negative breast cancer.', 25th Lorne Cancer Conference Proceedings, Lorne, VIC, Australia (2013) [E3]
Co-authorsMichelle Wong-Brown, Kelly Kiejda, John Forbes
2013Bolton KA, Ross J, Grice DM, Avery-Kiejda KA, Bowden NA, Holliday EG, Scott RJ, 'Role of Short Tandem Repeats in Disease and Evolutionary Mechanisms.', 34th Lorne Genome Conference Proceedings, Lorne, VIC, Australia (2013) [E3]
Co-authorsNikola Bowden, Kelly Kiejda, Liz Holliday
2013Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Integration of microRNA and gene expression profiling in triple negative breast cancer to identify possible biomarkers for metastases.', Breakthrough Breast Cancer TNBC Conference Proceedings, London, UK (2013) [E3]
Co-authorsMichelle Wong-Brown, Kelly Kiejda, John Forbes
2013Talseth-Palmer B, Meldrum C, Ashton KA, Spigelman A, Scott RJ, 'Revealing cancer complexity - Identification of Lynch syndrome cases', Familial Cancer, Carins, QLD (2013) [E3]
Co-authorsKatie Ashton, Bente Talseth-Palmer
2013Talseth-Palmer B, Wijnen JT, Andreassen EK, Jagmohan-Changur S, Barker D, Tops CM, et al., 'The importance of a large sample cohort for studies on modifier genes influencing disease development in FAP patients', Familial Cancer, Carins, QLD (2013) [E3]
Co-authorsBente Talseth-Palmer
2013Wong-Brown M, Li S, Wilkins M, Avery-Kiejda KA, Bowden N, Scott R, 'Targeted resequencing of BRCA1 and BRCA2 in familial breast cancer.', Kathleen Cunningham Foundation Consortium for Research into Familial Aspects of Cancer 2013 Research and Practice Proceedings, Cairns, QLD, Australia. (2013) [E3]
Co-authorsNikola Bowden, Kelly Kiejda, Michelle Wong-Brown
2013Wong-Brown M, Avery-Kiejda K, Bowden N, Scott R, 'Prevalence of BRCA1 and BRCA2 germline mutations in triple-negative breast cancer', Programme, Newcastle (2013) [E3]
CitationsWeb of Science - 1
Co-authorsKelly Kiejda, Nikola Bowden, Michelle Wong-Brown
2013Lumbers ER, Wang Y, Pringle KG, Scott RJ, 'Expression of the renin-angiotensin system in an endometrial cancer cell line', Published proceedings of the Symposium on Vasoactive Peptides, Belo Horizonte, Brazil (2013) [E3]
Co-authorsKirsty Pringle
2013Morten B, Scott RJ, Avery-Kiejda KA, 'Microarray analysis of differentially expressed genes in patients with high ¿40p53 expression.', Translational Cancer Research Conference Abstract booklet, Newcastle, Australia (2013) [E3]
Co-authorsKelly Kiejda
2013Bolton KA, Avery-Kiejda KA, Grice DM, Holliday EG, Bowden NA, Ross J, Scott RJ, 'STaRRRT: Our new resource for identifying candidates of genetic risk in breast and endometrial cancer.', Translational Cancer Research Conference Abstract booklet, Newcastle, Australia (2013) [E3]
Co-authorsNikola Bowden, Kelly Kiejda, Liz Holliday
2013Mathe A, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, Avery-Kiejda KA, 'Identification of biomarkers for metastatic spread in triple negative breast cancer.', Translational Cancer Research Conference Abstract booklet, Newcastle, Australia (2013) [E3]
Co-authorsMichelle Wong-Brown, Kelly Kiejda, John Forbes
2013Grice DM, Bauer DC, Duesing K, Li D, Greenfield P, Nielsen S, et al., 'Human and microbial transcriptomics from lean and obese individuals with colorectal cancer: A comparison of Total and Poly A RNA sequencing from clinical samples.', CANCER RESEARCH, Washington, DC (2013) [E3]
DOI10.1158/1538-7445.AM2013-LB-237Author URL
2013Graves M, Benton M, Lea R, Boyle M, Tajouri L, Macartney-Coxson D, et al., 'Epigenetic changes in CD4+T cells isolated from relapsing-remitting multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL, Copenhagen, DENMARK (2013) [E3]
Author URL
2013Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Meta-Analysis of GWA Studies Identifies New Endometriosis Risk Loci', REPRODUCTIVE SCIENCES, Orlando, FL (2013) [E3]
Author URL
Co-authorsJohn Attia, Liz Holliday
2012Bolton KA, Ross J, Grice DM, Kiejda KA, Bowden NA, Holliday EG, Scott R, 'Potential role of short tandem repeats in disease processes', Abstracts. 6th Australian Health & Medical Research Congress, Adelaide, SA (2012) [E3]
Co-authorsLiz Holliday, Nikola Bowden, Kelly Kiejda
2012Gardiner EJ, Cairns MJ, Beveridge NJ, Liu B, Mossman D, Carr VJ, et al., 'Differential gene expression in peripheral blood mononuclear cells from a large cohort of participants with schizophrenia', Abstracts. Australian Neuroscience Society 32nd Annual Meeting, Gold Coast, Queensland (2012) [E3]
Co-authorsPaul Tooney, Murray Cairns
2012Pan X, Nicholson RC, Scott R, Fitter JT, Smith R, Zakar T, 'DNA methylation associated with induction of CRH gene expression in trophoblast cells', Abstracts. The Annual Scientific Meeting of the Endocrine Society of Australia and the Society for Reproductive Biology 2012, Gold Coast, QLD (2012) [E3]
Co-authorsRoger Smith, John Fitter
2012Talseth-Palmer B, Scott R, 'A step closer to personalised medicine for Lynch Syndrome patients - Personalised screening can prevent cancer development in MLH1 mutation carriers', BDC 2012. 2nd Biomarker Discovery Conference, Shoal Bay, NSW (2012) [E3]
Co-authorsBente Talseth-Palmer
2012Scott R, 'Overview of genetic markers for hereditary colorectal cancer', Hereditary Cancer in Clinical Practice, Szczecin, Poland (2012) [E3]
2012Talseth-Palmer B, Wijen J, Brenne I, Jagomohan-Changur S, Baker D, Ashton KA, et al., 'Colorectal cancer risk modification in Lynch syndrome', Human Genome Meeting 2012: Genetics and Genomics in Personalised Medicine. Abstract Book, Sydney, NSW (2012) [E3]
Co-authorsKatie Ashton, Bente Talseth-Palmer
2012Kiejda KA, Forbes JF, Braye SG, Scott R, 'Identification of miRNAs associated with lymph node metastasis in triple-negative breast cancer', Human Genome Meeting 2012: Genetics and Genomics in Personalised Medicine. Abstract Book, Sydney, NSW (2012) [E3]
Co-authorsJohn Forbes, Kelly Kiejda
2012Wong-Brown M, Li S, Wilkins M, Kiejda KA, Bowden NA, Scott R, 'Exploratory targeted resequencing of BRCA1 and BRCA2 in inherited breast cancer', Programme. kConFab Familial Aspects of Cancer: Research & Practice 2012, Kingscliff, NSW (2012) [E3]
Co-authorsNikola Bowden, Michelle Wong-Brown, Kelly Kiejda
2012Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Wong-Brown M, Young B, et al., 'A case of two mutations in trans in a women diagnosed with breast cancer at the age of 3+0 years', Programme. kConFab Familial Aspects of Cancer: Research & Practice 2012, Kingscliff, NSW (2012) [E3]
Co-authorsMichelle Wong-Brown
2012Paul DJ, Henskens FA, Loughland CM, McCabe KL, Bridge JE, Duffy L, et al., 'Issues preventing the migration of the Australian Schizophrenia Research Bank to the cloud', Proceedings of the IADIS International Conference On Internet Technologies & Society, Perth, Australia (2012) [E1]
Co-authorsUlrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2012Paul DJ, Henskens FA, Loughland CM, Bridge JE, McCabe KL, Carr VJ, et al., 'IT development and management of a live e-research system: Experiences with the Australian Schizophrenia Research Bank', HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics, Vilamoura, Algarve (2012) [E1]
Co-authorsCarmel Loughland, Frans Henskens, Pat Michie, Ulrich Schall
2012Wong-Brown M, Li S, Wilkins M, Kiejda KA, Bowden NA, Scott R, 'Targeted resequencing of BRCA1 and BRCA2 in inherited breast cancer', Cancer Research, San Antonio, Texas (2012) [E3]
Co-authorsNikola Bowden, Michelle Wong-Brown, Kelly Kiejda
2012Loughland CM, McCabe KL, Bridge JE, Henskens FA, Catts S, Jablensky A, et al., 'The Australian Schizophrenia Research Biobank (ASRB): An audit of the first five years of recruitment resource access', Schizophrenia Research, Florence, Italy (2012) [E3]
Co-authorsFrans Henskens, Paul Tooney, Ulrich Schall, Carmel Loughland, Pat Michie
2012Baines KJ, Simpson JL, Wood LG, Scott RJ, Gibson PG, 'Sputum gene expression of mast cell specific proteases are increased in eosinophilic asthma', Respirology, Canberra, ACT (2012) [E3]
Co-authorsPeter Gibson, Lisa Wood, Katherine Baines, Jodie Simpson
2012Baines KJ, Simpson JL, Wood LG, Scott RJ, Gibson PG, 'Induced sputum differential gene expression implicates increased p38 signalling activity in severe asthma', Respirology, Canberra, ACT (2012) [E3]
Co-authorsKatherine Baines, Peter Gibson, Lisa Wood, Jodie Simpson
2012Ma GZM, Stankovich J, Kilpatrick TJ, Binder MD, Field J, 'Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility', MULTIPLE SCLEROSIS JOURNAL, Melbourne, AUSTRALIA (2012) [E3]
Author URL
2012Cox MB, Scott R, Stankovich J, Kermode A, Cortes A, Brown M, et al., 'The P2X7 receptor: Interaction with a HLA Class II allele which modulates the autoantibody response in multiple sclerosis', Multiple Sclerosis Journal, Hamburg, Germany (2012) [E3]
2012Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'A genome-wide CNV association study of Australian HNPCC/Lynch syndrome patients', Proceedings of the Australian Health & Medical Research Congress 2012, Adelaide, SA (2012) [E3]
Co-authorsLiz Holliday, Bente Talseth-Palmer, John Attia
2012Kurlapska A, Serrano-Fernandez P, Starzynska T, Malecka-Panas E, Dabrowski GA, Debniak T, et al., 'Cumulative small effect genetic markers and the detection of advanced colorectal neoplasias by population screening', Hereditary Cancer in Clinical Practice, Szczecin, Poland (2012) [E3]
2012Roselli SM, Moscato PA, Scott R, Hondermarck H, 'Breast cancer proteomics: Integrating the data with genomics and histology towards clinical applications', 18th Proteomics Symposium. Delegate Handbook, Lorne, Vic (2012) [E3]
Co-authorsHubert Hondermarck, Pablo Moscato
2011Maguire JM, Holliday EG, Sturm J, Golledge J, Lewis M, Koblar S, et al., 'Australian stroke genetics collaborative: Genetic associations with ischaemic stroke functional outcome', International Journal of Stroke, Adelaide, SA (2011) [E3]
Co-authorsPablo Moscato, Lisa Lincz, Jane Maguire, Mark Parsons, John Attia, Liz Holliday, Chris Levi
2011Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Downstream effects of reduction in nucleotide excision repair in response to cisplatin treatment in melanoma', Pigment Cell & Melanoma Research, Tampa, FL (2011) [E3]
DOI10.1111/j.1755-148X.2011.00909.x
Co-authorsKatie Ashton, Kelly Kiejda, Nikola Bowden, Xu Zhang
2011Vilain R, Braye SG, Ashman LK, Scott R, 'BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma', Pigment Cell & Melanoma Research, Tampa, FL (2011) [E3]
DOI10.1111/j.1755-148X.2011.00909.x
Co-authorsLeonie Ashman
2011Du Sart D, Marum J, Scott R, Macrae F, 'Does the axin gene have a role in polyposis?', 4th Biennial Meeting: International Society for Gastrointestinal Hereditary Tumours, San Antonio, Texas (2011) [E3]
2011Kiejda KA, Forbes JF, Hope TL, Braye SG, Scott R, 'Differential expression of miRNAs in triple-negative breast cancer', AMATA Conference Canberra 2011 Handbook, Canberra, ACT (2011) [E3]
Co-authorsJohn Forbes, Kelly Kiejda
2011Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Systemic upregulation of neutrophil a-defensins and serine proteases in neutrophilic asthma', European Respiratory Society Annual Congress 2011 Abstracts, Amsterdam (2011) [E3]
Co-authorsJodie Simpson, Peter Gibson, Lisa Wood, Katherine Baines
2011Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Sputum gene expression of mast cell tryptase and carboxypeptidase A3 are increased in eosinophilic asthma', European Respiratory Society Annual Congress 2011 Abstracts, Amsterdam (2011) [E3]
Co-authorsLisa Wood, Katherine Baines, Jodie Simpson, Peter Gibson
2011Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Induced sputum differential gene expression implicates increased p38 signalling activity in severe asthma', European Respiratory Society Annual Congress 2011 Abstracts, Amsterdam (2011) [E3]
Co-authorsLisa Wood, Peter Gibson, Katherine Baines, Jodie Simpson
2011Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Ashton KA, Tops CM, et al., 'Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome - a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts', Familial Aspects of Cancer: Research and Practice 2011, Kingscliff, NSW (2011) [E3]
Co-authorsBente Talseth-Palmer, Katie Ashton
2011Kiejda KA, Forbes JF, Braye SG, Scott R, 'MicroRNA expression profiling in triple-negative breast cancer', Keystone Symposia on Mollecular and Cellular Biology: MicroRNAs and Non-coding RNAs and Cancer, Banff, AL (2011) [E3]
Co-authorsJohn Forbes, Kelly Kiejda
2011Loughland CM, McCabe KL, Catts S, Jablensky A, Henskens FA, Michie PT, et al., 'The Australian Schizophrenia Research Bank (ASRB): The first 550 schizophrenia sample profile', Schizophrenia Bulletin, Schizophrenia Bulletin (2011) [E3]
Co-authorsPaul Tooney, Carmel Loughland, Pat Michie, Frans Henskens, Ulrich Schall
2011Mossman D, Tooney PA, Cairns MJ, Kelly BJ, Carr V, Scott R, 'Identification of alternatively spliced gene variants in schizophrenia', Schizophrenia Bulletin, Colorado Springs, CO (2011) [E3]
Co-authorsPaul Tooney, Brian Kelly, Murray Cairns
2011Wong-Brown M, Scott R, Hibberd A, Trevillian PR, Clark D, Meldrum C, 'Measurement of Foxp3 gene expression in renal transplant recipients', Immunology and Cell Biology, Canberra, Australia (2011) [E3]
Co-authorsMichelle Wong-Brown
2011Moscovis SM, Hall ST, Gleeson M, Scott R, Blackwell CC, 'Genetics, gender and environment: Effects on inflammatory responses and implications for Indigenous women', Proceedings of the 3rd Coalition for Research to Improve Aboriginal Health (CRIAH) Aboriginal Health Research Conference, Sydney, NSW (2011) [E3]
Co-authorsMaree Gleeson, Caroline Blackwell, Sharron Hall
2011Johnstone DM, Zandvakili S, Graham R, Trinder D, Scott R, Olynyk J, et al., 'Molecular changes relevant to motor neuron disease in the HFE-/- mouse model of hemochromatosis', Program Book: Fourth Congress of the International BioIron Society (IBIS), Vancouver, Canada (2011) [E3]
Co-authorsPablo Moscato, Liz Milward
2011Naudin C, Weidenhofer JC, Scott R, Ashman LK, Roselli SM, 'Induction of mindin expression is associated with glomerular basement membrane damage in Cd151(-/-) mice', Nephrology, Adelaide, SA (2011) [E3]
Co-authorsLeonie Ashman, Judith Weidenhofer
2011Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Ashton KA, Tops CM, et al., 'Chromosome 8q23.3 AND 11q23.1 variants modify colorectal cancer risk in Lynch syndrome: A meta-analysis of the Dutch and Australian Lynch syndrome cohorts', Abstracts: 4th Biennial Meeting: International Society for Gastrointestinal Hereditary Tumours, San Antonio, TX (2011) [E3]
Co-authorsBente Talseth-Palmer, Katie Ashton
2011Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Analysis of systemic gene expression according to inflammatory phenotype of asthma', Respirology, Perth, WA (2011) [E3]
Co-authorsLisa Wood, Jodie Simpson, Katherine Baines, Peter Gibson
2011Gardiner EJ, Beveridge NJ, Liu B, Carr VJ, Scott R, Tooney PA, Cairns MJ, 'Gene expression profiling in peripheral blood mononuclear cells in schizophrenia', The Proceedings of the First Scientific Meeting of Biological Psychiatry Australia, Melbourne, VIC (2011) [E3]
Co-authorsPaul Tooney, Murray Cairns
2011Martin AL, Talseth-Palmer B, Grice DM, Hannan G, Scott R, 'Elucidating the genetic predisposition to colorectal cancer', XIX NSW Scientific Meeting. Programme, Sydney, NSW (2011) [E3]
Co-authorsBente Talseth-Palmer
2010Gleeson M, Cox AJ, Pyne D, Callister R, Scott R, Fricker P, 'Cytokine gene polymorphisms and risk for upper respiratory symptoms in highly-trained athletes', 15th Annual Congress of the ECSS, Antalya, Turkey (2010) [E3]
Co-authorsRobin Callister, Maree Gleeson
2010Croft AJ, Kiejda KA, Bowden NA, Zhang X, Scott R, Hersey P, 'Expression profiling on apoptosis-related genes in cisplatin-treated human melanoma cell lines', 22nd Lorne Cancer Conference: Abstracts and Delegate Information, Lorne, Vic. (2010) [E3]
Co-authorsNikola Bowden, Kelly Kiejda
2010Wong-Brown M, Bowden NA, Kiejda KA, Scott R, 'BRIP1 and PALB2 mutation detection in Hunter-New England familial breast cancer cohort', 27th HUGO-IABCR Congress 2010. Genomics, Biology and Breast Cancer Treatment. Programme & Abstract Book, Biopolis, Singapore (2010) [E3]
Co-authorsMichelle Wong-Brown, Kelly Kiejda, Nikola Bowden
2010Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Altered nucleotide excision repair gene expression after cisplatin treatment in melanoma', AACR 101st Annual Meeting 2010. Abstracts, Washington, DC (2010) [E3]
DOI10.1158/0008-5472.CAN-10-0161
Co-authorsNikola Bowden, Kelly Kiejda, Katie Ashton, Xu Zhang
2010Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, Groombridge C, Spigelman AD, Scott R, 'Modifier genes influencing breast cancer incidence in HNPCC/Lynch syndrome', AMATA 2010 Conference: Conference Handbook, Hobart, Tasmania (2010) [E3]
Co-authorsBente Talseth-Palmer, Liz Holliday
2010Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Molecular phenotypes of asthma defined by gene expression profiling', American Journal of Respiratory and Critical Care Medicine, New Orleans, LO (2010) [E3]
Co-authorsLisa Wood, Katherine Baines, Peter Gibson, Jodie Simpson
2010Gardiner EJ, Beveridge NJ, Santarelli DMF, Wu JQ, Carr V, Scott R, et al., 'Mirna expression profiling in patients with schizophrenia', Australian & New Zealand Journal of Psychiatry, Sydney, NSW (2010) [E3]
Co-authorsPaul Tooney, Murray Cairns
2010Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Analysis of systemic gene expression according to inflammatory phenotype of asthma', Biomarker Discovery Conference, Shoal Bay, NSW (2010) [E3]
Co-authorsKatherine Baines, Jodie Simpson, Peter Gibson, Lisa Wood
2010Scott R, Talseth-Palmer B, Reeves SG, Meldrum, Groombridge C, Spigelman AD, et al., 'MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', Familial Cancer, Dusseldorf, Germany (2010) [E3]
DOI10.1038/ejhg.2008.239
CitationsScopus - 11Web of Science - 11
Co-authorsBente Talseth-Palmer
2010Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman AD, Scott R, 'Hereditary nonpolyposis colorectal cancer in 688 families: Mutations, age of diagnosis and cancer incidence', Familial Cancer, Dusseldorf, Germany (2010) [E3]
Co-authorsBente Talseth-Palmer
2010Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman AD, Scott R, 'Haemochromatosis HFE gene polymorphisms as ptential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age', Familial Cancer, Dusseldorf, Germany (2010) [E3]
CitationsScopus - 16Web of Science - 13
Co-authorsBente Talseth-Palmer
2010Ashton KA, Bowden NA, Kairupan CF, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Base excision repair and gene expression profiling in malignant melanoma', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book, Sydney, NSW (2010) [E3]
Co-authorsNikola Bowden, Kelly Kiejda, Katie Ashton, Xu Zhang
2010Wong-Brown M, Bowden NA, Forbes JF, Braye SG, Scott R, 'Microsatellite instability (I) in breast tumours', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book, Sydney, NSW (2010) [E3]
Co-authorsJohn Forbes, Nikola Bowden, Michelle Wong-Brown
2010Vilain RE, Braye SG, Ashman LK, Scott R, 'Characterisation of KIT mutated melanomas: A step in the development of patient-tailored treatement for melanoma', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book, Sydney, NSW (2010) [E3]
Co-authorsLeonie Ashman
2010Kiejda KA, Forbes JF, Braye SG, Scott R, 'The relationship between p53 isofor and estrogen receptor-alpha expression in breast cancer', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book, Sydney, NSW (2010) [E3]
Co-authorsJohn Forbes, Kelly Kiejda
2010Evans T-J, Talseth-Palmer B, Brenne IS, Ashton KA, McPhillips M, Groombridge C, et al., 'Colorectal cancer suspectibility loci on chr 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book, Sydney, NSW (2010) [E3]
Co-authorsBente Talseth-Palmer, Katie Ashton
2010Gardiner E, Beveridge NJ, Santarelli D, Wu J, Carr V, Scott RJ, et al., 'MIRNA EXPRESSION PROFILING IN PATIENTS WITH SCHIZOPHRENIA', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2010) [E3]
Author URL
Co-authorsPaul Tooney, Murray Cairns
2010Carr V, Loughland C, McCabe K, Nasir A, Catts S, Jablensky A, et al., 'THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): DEMOGRAPHIC, CLINICAL AND NEUROPSYCHOLOGICAL PROFILE OF PARTICIPANTS WITH SCHIZOPHRENIA', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2010) [E3]
Author URL
Co-authorsUlrich Schall, Paul Tooney, Frans Henskens
2010Wu JQ, Cairns MJ, Scott R, Carr V, Mowry B, Jablensky A, et al., 'Genome wide analysis of DNA copy number in schizophrenia reveals loss of heterozygosity on chromosome 6P22.1 and 16P11.2-11.1', Australian & New Zealand Journal of Psychiatry, Sydney, Australia (2010) [E3]
Co-authorsUlrich Schall, Murray Cairns, Paul Tooney
2010Maguire JM, Thakkinstian A, Levi CR, Lincz L, Bissett KE, Sturm J, et al., 'Genetic influences on ischemic stroke 90-day functional outcome: A novel association', Circulation, Beijing (2010) [E3]
Co-authorsChris Levi, John Attia, Lisa Lincz, Jane Maguire
2010Carr V, Loughland CM, McCabe KL, Nasir A, Stan C, Jablensky A, et al., 'The Australian Schizophrenia Research Bank (ASRB): Demographic, clinical and neuropsychological profiles for the first 500 participants with schizophrenia', Schizophrenia Research, Florence, Italy (2010) [E3]
Co-authorsUlrich Schall, Pat Michie, Carmel Loughland, Frans Henskens
2010Henskens FA, Carr VJ, Catts S, Jablensky A, Michie PT, Loughland CM, et al., 'The Australian Schizophrenia Research Bank (ASRB): An example of eresearch', Schizophrenia Research, Florence, Italy (2010) [E3]
Co-authorsFrans Henskens, Ulrich Schall, Carmel Loughland, Pat Michie
2010McCabe KL, Loughland CM, Nasir MA, Catts S, Jablensky A, Henskens FA, et al., 'The Australian Schizophrenia Research Bank (ASRB): Quality assurance and control for a comprehensive clinical, neuropsychological, genetic and neuroimaging database for researchers', Schizophrenia Research, Florence, Italy (2010) [E3]
Co-authorsUlrich Schall, Frans Henskens, Carmel Loughland, Pat Michie
2010Talseth-Palmer BA, Brenne IS, Ashton K, Evans TJ, McPhillips M, Groombridge C, et al., 'Colorectal cancer susceptibility loci on chr 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome', EJC SUPPLEMENTS, Oslo, NORWAY (2010) [E3]
Author URL
Co-authorsBente Talseth-Palmer
2010Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Molecular phenotypes of asthma defined by gene expression profiling', Respirology, Brisbane, QLD (2010) [E3]
Co-authorsJodie Simpson, Katherine Baines, Lisa Wood, Peter Gibson
2010Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, McEvoy MA, Attia JR, Scott R, 'A modern approach to the search for modifying genetic loci infleuncing the high breast cancer incidence seen in an Australian HNPCC/Lynch Syndrome cohort', Proceedings of the Australian Health and Medical Research Congress 2010, Melbourne, Vic (2010) [E3]
Co-authorsJohn Attia, Bente Talseth-Palmer, Liz Holliday
2009Hollins SL, Johnstone DM, Graham R, Van Helden DF, Kerr KP, Laver DR, et al., 'Cardiac gene expression in mouse models of iron loading disorders', 2009 International Biolron Society Meeting: Program Book, Porto, Portugal (2009) [E3]
Co-authorsDerek Laver, Liz Milward, Dirk Vanhelden, Karen Kerr
2009Johnstone DM, Graham R, Trinder D, Scott R, Olynyk J, Milward AE, 'Gene expression changes related to Alzheimer's disease and other neurodegenerative disorders in a hemochromatosis Hfe knockout mouse model', 2009 International Biolron Society Meeting: Program Book, Porto, Portugal (2009) [E3]
Co-authorsLiz Milward
2009Johnstone DM, Graham RM, Trinder D, Scott R, Olynyk J, Milward AE, 'Genome-wide microarray analysis of brain from a hemochromatosis Hfe knockout mouse model shows few changes in iron-related gene expression', 2009 International Biolron Society Meeting: Program Book, Porto, Portugal (2009) [E3]
Co-authorsLiz Milward
2009Johnstone DM, Ravetti MG, Riveros C, Moscato PA, Hersey P, Scott R, Milward AE, 'Genome-wide microarray analysis of melanoma reveals unexpected anomalies in iron-related gene expression', 2009 International Biolron Society Meeting: Program Book, Porto, Portugal (2009) [E3]
Co-authorsLiz Milward, Pablo Moscato
2009Kiejda KA, Scurr LL, Wade MA, Jiang CC, Weir AJW, Bowden NA, et al., 'Cisplatin induces apoptosis independently of Noxa or PUMA in human melanoma cells', 21st Lorne Cancer Conference, Lorne, VIC (2009) [E3]
Co-authorsKelly Kiejda, Xu Zhang, Nikola Bowden
2009Cox AJ, Pyne D, Gleeson M, Callister R, Fricker P, Scott R, 'Cytokine polymorphisms and risk for upper respiratory symptoms in highly-trained athletes', 9th Symposium of the International Society of Exercise and Immunology: Book of Abstracts, Tubingen, Germany (2009) [E3]
Co-authorsRobin Callister, Maree Gleeson
2009Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Genome wide gene expression of induced sputum in non-eosinophilic asthma', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authorsKatherine Baines, Jodie Simpson, Peter Gibson, Lisa Wood
2009Cox MB, Bowden NA, Scott R, Lechner-Scott J, 'Gene expression profiling in multiple sclerosis', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authorsNikola Bowden
2009Evans T-J, Bowden NA, Talseth-Palmer B, Catchpoole D, Scott R, 'Copy number variation in childhood acute lmphoblastic leukaemia', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authorsBente Talseth-Palmer, Nikola Bowden
2009Bowden NA, Ashton KA, Stibbard GJ, Cox MB, Baines KJ, Scott R, 'Predicting xeroderma pigmentosum complementation group by gene expression profiling', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authorsNikola Bowden, Katherine Baines, Katie Ashton
2009Kairupan CF, Bowden NA, Ashton KA, Zhang XD, Hersey P, Scott R, 'Gene expression profiling in malignant melanoma', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authorsNikola Bowden, Katie Ashton, Xu Zhang
2009Johnstone DM, Graham RM, Trinder D, Scott R, Olynyk J, Milward AE, 'Genome-wide brain gene expression changes related to Alzheimer's disease and other neurodegenerative disorders in mouse models of dietary iron overload and human haemochromatosis', ASMR National Scientific Conference 2009. Proceedings of The Australian Society for Medical Research, 48th National Scientific Conference, Hobart, TAS (2009) [E3]
Co-authorsLiz Milward
2009Hollins SL, Johnstone DM, Van Helden DF, Kerr KP, Laver DR, Metelerkamp KM, et al., 'Cardiac gene expression in mouse models of iron loading', ASMR XVII NSW Scientific Meeting: Programme and Abstracts, Sydney, NSW (2009) [E3]
Co-authorsKaren Kerr, Dirk Vanhelden, Liz Milward, Derek Laver
2009Johnstone DM, Ravetti MG, Moscato PA, Hersey P, Scott R, Milward AE, 'Metabolic gene expression in advanced melanoma', ASMR XVII NSW Scientific Meeting: Programme and Abstracts, Sydney, NSW (2009) [E3]
Co-authorsPablo Moscato, Liz Milward
2009Henskens FA, Carr VJ, Catts SV, Jablenski A, Michie PT, Loughland CM, et al., 'An Example of eResearch: The Australian Schizophrenia Research Bank', Proceedings eResearch 2009, Sydney, Australia (2009)
Co-authorsUlrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2009Henskens FA, Loughland CM, Aphale MS, Paul D, Richards JM, Rasser P, et al., 'it support for the australian schizophrenia research bank', HEALTHINF 2009 - Proceedings of the 2nd International Conference on Health Informatics, Oporto, PORTUGAL (2009) [E1]
Co-authorsUlrich Schall, Frans Henskens, Pat Michie, Carmel Loughland
2009Milward AE, Johnstone DM, Ravetti MG, Berretta RE, Hersey P, Scott R, Moscato PA, 'The relationship between Parkinson's disease and melanoma: Insights from microarray analysis of genome-wide gene expression changes in melanoma', ASMR National Scientific Conference 2009. Proceedings of The Australian Society for Medical Research, 48th National Scientific Conference, Hobart, TAS (2009) [E3]
Co-authorsLiz Milward, Regina Berretta, Pablo Moscato
2009Carr VJ, Loughland CM, Catts S, Henskens FA, Jablensky A, Michie PT, et al., 'A database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia', Schizophrenia Bulletin, San Diego, CA (2009) [E3]
DOI10.1093/schbul/sbn173
Co-authorsPat Michie, Carmel Loughland, Frans Henskens, Ulrich Schall
2009Loughland CM, Richards J, Aphale M, Henskens FA, Carr VJ, Catts SV, et al., 'The Australian Schizophrenia Research Bank (ASRB): The development of an electronically delivered clinical assessment battery', Schizophrenia Bulletin, San Diego, CA (2009) [E3]
DOI10.3109/00048674.2010.501758
CitationsScopus - 23
Co-authorsUlrich Schall, Pat Michie, Carmel Loughland, Frans Henskens, Terry Lewin
2009Hall ST, Tzanakaki G, Kremastinou J, Scott R, Blackwell CC, Titmarsh CJ, Moscovis SM, 'Comparison of cytokine gene polymorphisms among Greek patients with meningococcal or viral meningitis', The Pediatric Infectious Disease Journal, Brussels, Belgium (2009) [E3]
DOI10.1097/inf.0b013e3181a51c24
Co-authorsSharron Hall, Caroline Blackwell
2009Maguire J, Thakkinstian A, Attia JR, Lincz L, Bisset L, Sturm J, et al., 'Impact of COX-2 RS5275, RS20417 and GPIIIA RS5918 polymorphisms on 90 day ischaemic stroke functional outcome: A novel association', Cerebrovascular Diseases, Stockholm, Sweden (2009) [E3]
DOI10.1159/000221772
Co-authorsJohn Attia, Chris Levi, Lisa Lincz
2008Baines KJ, Simpson JL, Scott R, Gibson PG, 'Ageing alters airway and circulating neutrophil function', Respirology, Melbourne, VIC (2008) [E3]
DOI10.1111/j.1440-1843.2008.01252.x
Co-authorsPeter Gibson, Jodie Simpson, Katherine Baines
2008Baines KJ, Simpson JL, Scott R, Gibson PG, 'Innate immune responses of airway neutrophils are impaired in neutrophilic asthma', Respirology, Melbourne, VIC (2008) [E3]
DOI10.1111/j.1440-1843.2008.01252.x
Co-authorsJodie Simpson, Peter Gibson, Katherine Baines
2008Carr VJ, Loughland CM, Catts SV, Henskens FA, Jablensky A, Michie PT, et al., 'A progress report on the Australian Schizophrenia Research Bank', Australian and New Zealand Journal of Psychiatry, Lorne, VIC (2008) [E3]
Co-authorsCarmel Loughland, Ulrich Schall, Pat Michie, Frans Henskens
2008Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Altered nucleotide excision repair gene expression after cisplatin treatment in melanoma', Proceedings of the Australian Health and Medical Research Congress 2008, Brisbane, QLD (2008) [E3]
Co-authorsKelly Kiejda, Nikola Bowden, Xu Zhang, Katie Ashton
2008Johnstone DM, Graham R, Trinder D, Scott R, Olynyk JK, Milward AE, 'Alterations in the expression of genes important in Alzheimer's disease (APP presenilin 1 tau) in the HFE knockout mouse model of the iron disorder hemochromatosis', Alzheimer's and Disease, Chicago, IL (2008) [E3]
Co-authorsLiz Milward
2008Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'The P53 splice variants, P53B and 40P53, are expressed in human melanoma cells and can differnetially regulate the transcription of P53 target genes in response to cisplatin', 20th Lorne Cancer Conference, Lorne, VIC (2008) [E3]
Co-authorsXu Zhang, Kelly Kiejda
2008Bowden NA, Baines KJ, Cox MB, Scott R, 'Altered gene expression in nucleotide excision repair deficient fibroblasts after UV-light exposure', AACR Meeting Abstracts, San Diego, CA (2008) [E3]
Co-authorsNikola Bowden, Katherine Baines
2008Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Combined tp53 r72p and mdm2 snp309 genotypes are associated with high grade endometrial cancer', ASMR XVII NSW Scientific Meeting: Programme and Abstracts, Sydney, NSW (2008) [E3]
Co-authorsJohn Attia, Ian Symonds, Katie Ashton
2008Bowden NA, Baines KJ, Cox MB, Scott R, 'Response to uv-light exposure in fibroblasts with differential nucleotide excision repair capacity', ASMR XVII NSW Scientific Meeting: Programme and Abstracts, Sydney, NSW (2008) [E3]
Co-authorsKatherine Baines, Nikola Bowden
2008Bowden NA, Ashton KA, Baines KJ, Cox MB, Scott R, 'Altered gene expression after UV-light induced DNA damage', Conference on Translational Cancer Research: Abstracts, Newcastle, NSW (2008) [E3]
Co-authorsKatie Ashton, Nikola Bowden, Katherine Baines
2008Ashton KA, Proietto AM, Otton GR, Hamann U, Scott R, 'The genetic basis of endometrial cancer', Conference on Translational Cancer Research: Abstracts, Newcastle, NSW (2008) [E3]
Co-authorsKatie Ashton
2008Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman A, Scott R, 'Hereditary nonpolyposis colorectal cancer in families: Mutations, age of diagnosis of cancer and cancer incidence', Conference on Translational Cancer Research: Abstracts, Newcastle, NSW (2008) [E3]
Co-authorsBente Talseth-Palmer
2008Ashton KA, Proietto AM, Otton GR, Hamann U, Scott R, 'The genetic basis of endometrial cancer', Keystone Symposia on Molecular and Cellular Biology: Abstract Book, Singapore (2008) [E3]
Co-authorsKatie Ashton
2008Richards J, Loughland CM, Aphale M, Henskens FA, Carr VJ, Catts SV, et al., 'The Australian Schizophrenia Research Bank (ASRB) computer-based clinical assessment software (CAS): Development and application', Australian and New Zealand Journal of Psychiatry, Newcastle, NSW (2008) [E3]
Co-authorsUlrich Schall, Frans Henskens, Pat Michie, Carmel Loughland, Terry Lewin
2007Carr VJ, Loughland CM, Draganic B, Lewin TJ, Schall UA, Scott R, et al., 'The Australian Schizophrenia Research Bank (ASRB)', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research), Colorado Springs, Colorado (2007) [E3]
Co-authorsTerry Lewin, Pat Michie, Frans Henskens, Carmel Loughland, Ulrich Schall
2007Baines KJ, Bowden NA, Scott R, Simpson JL, Gibson PG, 'Molecular analysis of neutrophils in asthma subtypes', Respirology (TSANZ Abstracts-Posters), Auckland (2007) [E3]
DOI10.1111/j.1440-1843.2007.001050.x
Co-authorsJodie Simpson, Peter Gibson, Katherine Baines, Nikola Bowden
2007Cox M, Bowden NA, Moscato PA, Berretta RE, Scott R, 'Memetic algorithms as a new method to interpret gene expression profiles in multiple sclerosis', Multiple Sclerosis (Abstracts of the 23rd Congress of the European Committee for Treatment and Research in Multiple Sclerosis and the 12th Annual Conference of Rehabilitation in Multiple Sclerosis), Prague, Czech Republic (2007) [E3]
CitationsWeb of Science - 2
Co-authorsPablo Moscato, Nikola Bowden, Regina Berretta
2007Hall ST, Stuart JE, Blackwell CC, Robilliard M, Dorrington R, Ashhurst-Smith CIJ, et al., '24 Common Themes of Successful Health Service Models in Rural Australia', 2007 Rural Health Research Colloquium. Official Program, Tamworth, NSW (2007) [E3]
Co-authorsCaroline Blackwell
2007Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'MEK/ERK-mediated regulation of the Bcl-2 family members Mcl-1, PUMA, and Bim contributes to survival of human melanoma cells', 4th Garvan Signalling Symposium. Conference Proceedings, Sydney, NSW (2007) [E3]
Co-authorsKelly Kiejda, Xu Zhang
2007Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by cisplatin', 4th Garvan Signalling Symposium. Conference Proceedings, Sydney, NSW (2007) [E3]
Co-authorsXu Zhang, Kelly Kiejda
2007Reeves SG, Scott R, Rich D, Meldrum CJ, Colyvas KJ, Kurzawski G, et al., 'IGF-1 is a modifier of disease risk in Hereditary non-polyposis colorectal cancer', Journal of Medical Genetics, York, U.K. (2007) [E3]
Co-authorsKim Colyvas
2007Loughland C, Michie PM, Stain H, Babcock J, Jablensky A, Draganic D, et al., 'The national recruitment and assessment of people with schizophrenia: The ASRB experience', Proceedings ASPR 2007, Melbourne, Australia (2007)
Co-authorsTerry Lewin, Ulrich Schall, Carmel Loughland, Frans Henskens, Pat Michie
2007Simpson JL, Powell H, Boyle MJ, Scott R, Gibson PG, 'Anti-inflammatory effects of clarithromycin in refractory non-eosinophilic asthma', Respirology (TSANZ Abstracts-Posters), Auckland (2007) [E3]
DOI10.1111/j.1440-1843.2007.001050.x
Co-authorsJodie Simpson, Peter Gibson
2007Cairns MJ, Beveridge NJ, Carroll A, Scott R, Tooney PA, 'Investigation of post transcriptional gene silencing in schizophrenia', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research), Colorado Springs, Colorado (2007) [E3]
Co-authorsMurray Cairns, Paul Tooney
2007Tooney PA, Scott R, Cairns MJ, Bowden NA, 'Altered gene expression in the superior temporial gyrus in schizophrenia', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research), Colorado Springs, Colorado (2007) [E3]
Co-authorsPaul Tooney, Nikola Bowden, Murray Cairns
2006Simpson JL, Scott R, Boyle MJ, Oldham RA, Gibson PG, 'IL-8 levels ininflammatory subtypes of airway disease', Respirology, Canberra (2006) [E3]
Co-authorsPeter Gibson, Jodie Simpson
2006Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in asthma with fixed airflow obstruction', Respirology, Canberra (2006) [E3]
Co-authorsJodie Simpson, Peter Gibson
2006Baines KJ, Simpson JL, Scott R, Bell NV, Boyle MJ, Gibson PG, 'Enhanced IL-8 release from neutrophils in non-eosinophilic asthma', Respirology, Canberra (2006) [E3]
Co-authorsJodie Simpson, Katherine Baines, Peter Gibson
2006Simpson JL, Grissell TV, Douwes J, Scott R, Boyle MJ, Gibson PG, 'Innate immune activation in neutrophilic asthma', The Journal of the Japanese Respiratory Society, Tokyo (2006) [E3]
Co-authorsPeter Gibson, Jodie Simpson
2006Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in Asthma with fixed airflow obstruction', American Thoracic Society. Proceedings, San Diego, California (2006) [E3]
Co-authorsPeter Gibson, Jodie Simpson
2006Ashton KA, Meldrum CJ, McPhillips ML, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Are polymorphisms in the toll-like receptors associated with disease risk in HNPCC?', 11th International Human Genetics: Final Program, Brisbane, QLD (2006) [E3]
Co-authorsKatie Ashton
2006Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Dysfunction of genes regulating membrane exocytosis in schizophrenia (Poster presentation)', Australian and New Zealand Journal of Psychiatry (Vol 40, noS2), Fremantle, Western Australia (2006) [E3]
Co-authorsJudith Weidenhofer, Nikola Bowden, Paul Tooney
2006Ronan A, Thakkinstian A, Zakaria S, Settakorn J, Moscovis SM, Scott R, et al., 'The role of MTHFR polymorphisms and dietary folate in childhood cancer', Program of the 11th International Congress of Human Genetics, Brisbane, QLD (2006) [E3]
Co-authorsJohn Attia
2005Russell SH, Loughland CM, Tooney PA, Scott R, Carr VJ, 'The Hunter DNA bank for schizophrenia and allied disorders: A unique Australian Resource facilitating genetic research into mental illness', Abstracts for The Royal Australian & NZ College of Psychiatrists Joint CINP/ASPR Scientific Meeting, Brisbane (2005) [E3]
Co-authorsPaul Tooney, Carmel Loughland
2005Foster R, Byrnes E, Ferrao P, Meldrum C, Ross G, Upjohn E, et al., 'A polymorphism in the transmembrane domain of c-KIT associated with pediatric mastocytosis', JOURNAL OF INVESTIGATIVE DERMATOLOGY, Perth, AUSTRALIA (2005)
Author URL
Co-authorsLeonie Ashman
2005Bowden NA, Weidenhofer JC, Scott R, Schall UA, Todd J, Michie PT, Tooney PA, 'Classification of schizophrenia using differential gene expression in peripheral blood lymphocytes', Human Genetics Society of Australasia, Newcastle (2005) [E3]
Co-authorsNikola Bowden, Judith Weidenhofer, Juanita Todd, Pat Michie, Paul Tooney, Ulrich Schall
2005Ashton KA, Talseth-Palmer B, Meldrum CJ, McPhillips ML, Scott R, 'COMT polymorphism (V158M) and its association with endometrial cancer in HNPCC families that adhere to the Amsterdam or Bethesda criteria', Human Genetics Society of Australasia 29th Annual Conference, Newcastle, NSW (2005) [E3]
Co-authorsBente Talseth-Palmer, Katie Ashton
2005Talseth-Palmer B, Meldrum C, Ashton KA, Scott R, 'Age of disease onset in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53', Human Genetics Society of Australasia 29th Annual Conference, Newcastle, NSW (2005) [E3]
Co-authorsBente Talseth-Palmer, Katie Ashton
2004Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Altered Expression of Brain Related Genes in Lymphocytes in Schizophrenia', American Journal of Medical Genetics, Ireland (2004) [E3]
DOI10.1002/ajmg.b.30101
Co-authorsUlrich Schall, Paul Tooney, Juanita Todd, Judith Weidenhofer, Nikola Bowden
2004Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Gene Profiling in the Amygdala in Schizophrenia', American Journal of Medical Genetics, Ireland (2004) [E3]
Co-authorsNikola Bowden, Judith Weidenhofer, Paul Tooney
2004Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Differental Gene Expression in Peripheral Blood Lymphocytes in Schizophrenia', Proceedings of the Australian Neuroscience Society, Melbourne (2004) [E3]
Co-authorsJudith Weidenhofer, Ulrich Schall, Nikola Bowden, Juanita Todd, Paul Tooney
2004Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Altered Gene Expression Profiles in the Amygdala in Schizophrenia', Proceedings of the Australian Neuroscience Society, Melbourne (2004) [E3]
Co-authorsPaul Tooney, Nikola Bowden, Judith Weidenhofer
2004Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Distinct Gene Expression Profiles due to Age in Schizophrenia', Proceedings of the Australian Neuroscience Society, Melbourne (2004) [E3]
Co-authorsJuanita Todd, Judith Weidenhofer, Nikola Bowden, Ulrich Schall, Paul Tooney
2003Spigelman AD, Gani JS, Burgess BT, Groombridge C, Dudding TE, Ingrey AJ, et al., 'Advanced Duodenal Polyposis: Literature review and experience with pancreas-sparing duodenectomy inpatients with familial adenomatous polyposis (FAP)', Familial Cancer, Cleveland, Ohio (2003) [E4]
Co-authorsMaree Gleeson
2003Edwards M, Roddick L, Scott R, 'Autosomal dominant nonsyndromic cleft lip and palate linked to chromosome 4', AMERICAN JOURNAL OF HUMAN GENETICS, LOS ANGELES, CALIFORNIA (2003)
Author URL
1999Heinimann K, Scott RJ, Buerstedde JM, Weber W, Siebold K, Attenhofer M, et al., 'Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer', CANCER, NEW ORLEANS, LOUISIANA (1999)
DOI10.1002/(SICI)1097-0142(19990615)85:12<2512::AID-CNCR4>3.0.CO;2-GAuthor URL
CitationsWeb of Science - 30
Show 183 more conferences
Edit

Grants and Funding

Summary

Number of grants132
Total funding$21,716,985

Click on a grant title below to expand the full details for that specific grant.


20153 grants / $404,487

Elevated INPP4B as a biomarker and therapeutic target in colorectal cancer$343,987

Funding body: Cancer Council NSW

Funding bodyCancer Council NSW
Project TeamProfessor Xu Dong Zhang, Professor Rodney Scott
SchemeResearch Grant
RoleInvestigator
Funding Start2015
Funding Finish2015
GNoG1400352
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Destroying kidney cells that evade current treatments$46,000

Funding body: Kidney Health Australia

Funding bodyKidney Health Australia
Project TeamDoctor Craig Gedye, Doctor Nikola Bowden, Professor Rodney Scott
SchemeMedical Research Project Grants
RoleInvestigator
Funding Start2015
Funding Finish2015
GNoG1401048
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

Too Much of a Good Thing: Application for a triple-gas incubator to allow cell culture under normal conditions$14,500

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Craig Gedye, Professor Rodney Scott, Doctor Nikola Bowden, Doctor Simon Keely, Doctor Kathryn Skelding
SchemeResearch Grant
RoleInvestigator
Funding Start2015
Funding Finish2015
GNoG1500730
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

201416 grants / $1,590,991

High Throughput Image Capture Platform for Translational Cancer Research$282,614

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamConjoint Professor Stephen Ackland, Professor Rodney Scott, Professor John Forbes, Professor Xu Dong Zhang, Professor Marjorie Walker, Professor Hubert Hondermarck, Doctor Craig Gedye, Doctor Rick Thorne, Mr Loui Rassam, Doctor Stephen Braye
SchemeResearch Equipment Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1400626
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Embedding patient tissue banking consent into routine clinical practice: To maximize state-wide consent and enable a patient-led approach to tissue banking$265,000

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott, Doctor Craig Gedye, Associate Professor Christine Paul, Assoc. Prof Nicholas Hawkins, Associate Professor Deborah Marsh, Professor Phil Crowe
SchemeCommunity of Practice Program
RoleLead
Funding Start2014
Funding Finish2014
GNoG1400792
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Unifying genomics and methylation studies of multiple sclerosis$220,000

Funding body: Multiple Sclerosis Research Australia Limited

Funding bodyMultiple Sclerosis Research Australia Limited
Project TeamConjoint Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott, Associate Professor Helmut Butzkueven, Professor Bruce Taylor
SchemeProject Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1400570
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations$150,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Marc Wilkins, Professor Rick Cavicchioli, Professor Brett Neilan, Professor Rodney Scott, Laureate Professor Paul Foster, Associate Professor Phillip Dickson, Professor Ian Charles, Associate Professor Elizabeth Harry, Associate Professor Steven Djordjevic, Associate Professor Cynthia Whitchurch, Professor Ian Paulsen, Professor Nicolle Packer, Professor Michael Gillings
SchemeEquipment Grant
RoleLead
Funding Start2014
Funding Finish2014
GNoG1300426
Type Of FundingInternal
CategoryINTE
UONY

Characterization of Epigenetic Profiles in Patients with Multiple Sclerosis$150,000

Funding body: Canadian Institutes of Health Research

Funding bodyCanadian Institutes of Health Research
Project TeamDoctor Vicki Maltby, Professor Rodney Scott
SchemeFellowship Award
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301250
Type Of FundingInternational - Competitive
Category3IFA
UONY

Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations$128,147

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Marc Wilkins, Professor Rick Cavicchioli, Professor Brett Neilan, Professor Rodney Scott, Laureate Professor Paul Foster, Associate Professor Phillip Dickson, Professor Ian Paulsen, Professor Nicolle Packer, Professor Michael Gillings, Professor Ian Charles, Associate Professor Elizabeth Harry, Associate Professor Steven Djordjevic, Associate Professor Cynthia Whitchurch
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2014
Funding Finish2014
GNoG1301339
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

The Nanostring nCounter System$75,000

Funding body: Ramaciotti Foundations

Funding bodyRamaciotti Foundations
Project TeamProfessor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
SchemeMajor Equipment Award
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1300853
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

The Virtuous Circle: A Living Brain Cancer BioBank$74,650

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Craig Gedye
SchemeProject Grant
RoleLead
Funding Start2014
Funding Finish2014
GNoG1401406
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Biobanking Stakeholder Network Pre-Operative Consent Project$55,580

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott, Conjoint Professor Stephen Ackland
SchemeCommunity of Practice Program
RoleLead
Funding Start2014
Funding Finish2014
GNoG1301060
Type Of FundingOther Public Sector - State
Category2OPS
UONY

The Nanostring nCounter System$40,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
SchemeEquipment Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301083
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Targeted next-generation sequencing of potential breast cancer susceptibility genes$30,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Michelle Brown, Professor Rodney Scott
SchemeBridging Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301293
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Genetic and Environmental Determinants of Depressive Symptoms: Trajectory and Outcomes in a Longitudinal Population Data Set$30,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Brian Kelly, Associate Professor Paul Tooney, Professor Rodney Scott, Professor John Attia, Conjoint Associate Professor Murray Cairns, Professor Vaughan Carr
SchemeProject Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1400594
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Antipituitary Autoantibodies and Pituitary Target Autoantigen Characterization$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Vicki Maltby, Conjoint Associate Professor Patricia Crock, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301324
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Biological characterisation of genetic associations for large artery atherosclerotic stroke$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Liz Holliday, Professor Rodney Scott, Conjoint Professor Chris Levi, Professor John Attia, Associate Professor Jane Maguire
SchemeStroke Research Project Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301340
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

The Nanostring nCounter System$20,000

Funding body: John Hunter Hospital Charitable Trust Fund

Funding bodyJohn Hunter Hospital Charitable Trust Fund
Project TeamProfessor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
SchemeResearch Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1301084
Type Of FundingOther Public Sector - State
Category2OPS
UONY

A new frontier in breast cancer: Can small molecules in the blood predict outcome?$20,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Doctor Jude Weidenhofer, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2014
Funding Finish2014
GNoG1401454
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

201314 grants / $1,652,266

Enabling Clinical Epigenetic Diagnostics: The Next Generation of Personalized Breast Cancer Care$605,301

Funding body: National Breast Cancer Foundation

Funding bodyNational Breast Cancer Foundation
Project TeamProfessor Matt Trau, Assoc. Prof Glenn Francis, Assoc. Prof Susan Clark, Professor John Forbes, Dr Melissa Brown, Professor Alexander Dobrovic, Professor Rodney Scott
SchemeCollaborative Breast Cancer Research Grant Program
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1201095
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

HMRI MRSP Infrastructure (12-16) - IBM (Information Based Medicine Program)$228,910

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Professor Pablo Moscato
SchemeNSW MRSP Infrastructure Grant
RoleLead
Funding Start2013
Funding Finish2013
GNoG1300874
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Uncovering the link between obesity and cancer using random forests in an elastic cloud$206,743

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott, Doctor Bente Talseth-Palmer
SchemeNSW Premier's Awards for Outstanding Cancer Research: "Big Data, Big Impact" Grant
RoleLead
Funding Start2013
Funding Finish2014
GNoG1300824
Type Of FundingOther Public Sector - State
Category2OPS
UONY

A Research Platform for Exploring the Genotype:Phenotype Nexus$120,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamAssociate Professor Elizabeth Harry, Professor Ian Paulsen, Professor Marc Wilkins, Professor Peter Waterhouse, Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Conjoint Professor Ray Rose, Associate Professor Neville Firth, Dr Gyorgy Hutvagner, Associate Professor Cynthia Whitchurch, Associate Professor Robert Willows, Dr Bret Church
SchemeEquipment Grant
RoleLead
Funding Start2013
Funding Finish2013
GNoG1200250
Type Of FundingInternal
CategoryINTE
UONY

A Research Platform for Exploring the Genotype:Phenotype Nexus$114,416

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamAssociate Professor Elizabeth Harry, Professor Ian Paulsen, Professor Marc Wilkins, Professor Peter Waterhouse, Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Conjoint Professor Ray Rose, Associate Professor Neville Firth, Dr Gyorgy Hutvagner, Associate Professor Cynthia Whitchurch, Associate Professor Robert Willows, Dr Bret Church
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2013
Funding Finish2013
GNoG1300668
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

A genome wide association study on childhood brain tumours$110,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Frank Alvaro, Miss Tiffany Evans, Professor John Attia, Doctor Liz Holliday, Dr Elizabeth Milne, Professor Bruce Armstrong
SchemeResearch Grant
RoleLead
Funding Start2013
Funding Finish2013
GNoG1301149
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Investigation into a collaborative imaging database for NSW biobanks.$100,000

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott, Conjoint Professor Stephen Ackland, Assoc. Prof Nicholas Hawkins, Associate Professor Deborah Marsh
SchemeCommunity of Practice Program
RoleLead
Funding Start2013
Funding Finish2013
GNoG1300902
Type Of FundingOther Public Sector - State
Category2OPS
UONY

A genome-wide study of lymphocyte-specific DNA methylation status in relation to Multiple Sclerosis$38,448

Funding body: Multiple Sclerosis Research Australia Limited

Funding bodyMultiple Sclerosis Research Australia Limited
Project TeamConjoint Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott, Dr Rodney Lea
SchemeProject Grant
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1300511
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

A genome-wide study of lymphocyte-specific DNA methylation status in relation to Multiple Sclerosis$38,448

Funding body: Multiple Sclerosis Research Australia Limited

Funding bodyMultiple Sclerosis Research Australia Limited
Project TeamConjoint Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott, Dr Rodney Lea
SchemeProject Grant
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1300511
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The function of the delta-40p53 isoform in breast cancer.$30,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Miss Brianna Morten, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1300583
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Drugs that act on the renin-angiotensin system; repositioning their therapeutic targets to endometrial cancer$20,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott, Professor Eugenie Lumbers
SchemeNear Miss Grant
RoleLead
Funding Start2013
Funding Finish2013
GNoG1300484
Type Of FundingInternal
CategoryINTE
UONY

Drugs that act on the renin-angiotensin system; respositioning their therapeutic targets to endometrial cancer$20,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Professor Eugenie Lumbers
SchemeNear Miss
RoleLead
Funding Start2013
Funding Finish2013
GNoG1300654
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamConjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor Jane Maguire
SchemeNear Miss Grant
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1300475
Type Of FundingInternal
CategoryINTE
UONY

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor Jane Maguire
SchemeNear Miss
RoleInvestigator
Funding Start2013
Funding Finish2013
GNoG1300704
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

201213 grants / $1,492,230

Single Cell Genomics$200,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Ian Paulsen, Professor Rodney Scott
SchemeEquipment Grant
RoleLead
Funding Start2012
Funding Finish2012
GNoG1100630
Type Of FundingInternal
CategoryINTE
UONY

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$180,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamLaureate Professor Paul Foster, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Professor Roger Smith, Professor Rodney Scott
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1100746
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

Single Cell Genomics$157,548

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Ian Paulsen, Professor Marc Wilkins, Professor Nicolle Packer, Professor Claire Wade, Professor Peter Waterhouse, Professor Rodney Scott, Professor Ian Dawes, Professor Rick Cavicchioli, Associate Professor Robert Willows, Associate Professor Cynthia Whitchurch, Professor Ian Charles, Professor Hatch Stokes, Professor Michael Gillings, Dr Dayong Jin, Associate Professor Neville Firth
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2012
Funding Finish2012
GNoG1200066
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$150,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamLaureate Professor Paul Foster, Professor Trevor Day, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Professor Roger Smith, Professor Rodney Scott
SchemeEquipment Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1100744
Type Of FundingInternal
CategoryINTE
UONY

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$122,927

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamLaureate Professor Paul Foster, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Professor Roger Smith, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200668
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

HMRI MRSP Infrastructure (11-12)- IBM$114,455

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Pablo Moscato, Professor Rodney Scott
SchemeNSW MRSP Infrastructure Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1101138
Type Of FundingOther Public Sector - State
Category2OPS
UONY

p53 isoforms in breast cancer - MM Sawyer Estate Scholarship$75,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Professor Rodney Scott
SchemeMary Minto Sawyer Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200615
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Technical officer to support the Australian Schizophrenia Research Bank (ASRB)$70,000

Funding body: Schizophrenia Research Institute

Funding bodySchizophrenia Research Institute
Project TeamProfessor Rodney Scott, Doctor Carmel Loughland
SchemeResearch Grant
RoleLead
Funding Start2012
Funding Finish2012
GNoG1200834
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Small p53 isoforms, BIG implications for treatment response in breast cancer$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200322
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Development of a diagnostic genetic test for childhood skin cancer disorders$40,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Nikola Bowden, Professor Rodney Scott
SchemeResearch Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200164
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$20,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamConjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Doctor Lisa Lincz
SchemeNear Miss Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200675
Type Of FundingInternal
CategoryINTE
UONY

Revealing cancer complexity - identification of Lynch syndrome cases$10,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamDoctor Bente Talseth-Palmer, Professor Rodney Scott, Doctor Liz Holliday
SchemeEarly Career Researcher Grant
RoleInvestigator
Funding Start2012
Funding Finish2012
GNoG1200519
Type Of FundingInternal
CategoryINTE
UONY

20118 grants / $2,124,470

Hunter Translational Cancer Research Unit$1,693,333

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamConjoint Professor Stephen Ackland, Emeritus Professor Leonie Ashman, Professor John Forbes, Laureate Professor Robert Sanson-Fisher, Conjoint Associate Professor Anthony Proietto, Professor Rodney Scott
SchemeTranslational Cancer Research Unit
RoleInvestigator
Funding Start2011
Funding Finish2011
GNoG1100545
Type Of FundingOther Public Sector - State
Category2OPS
UONY

HMRI MRSP Infrastructure Grant (10-11) - IBM$115,480

Funding body: NSW Office for Science & Medical Research

Funding bodyNSW Office for Science & Medical Research
Project TeamProfessor Rodney Scott, Professor Pablo Moscato
SchemeMedical Research Support Program
RoleLead
Funding Start2011
Funding Finish2011
GNoG1001066
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Research microscope, confocal ready nikon eclipse 90i microscope$69,157

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamProfessor Roger Smith, Conjoint Professor Tam Zakar, Professor Jon Hirst, Doctor Kaushik Maiti, Doctor Gemma Madsen, Professor Rodney Scott, Conjoint Professor Peter Wark, Laureate Professor Paul Foster, Professor Phil Hansbro, Conjoint Professor Ian Wright
SchemeEquipment Grant
RoleInvestigator
Funding Start2011
Funding Finish2011
GNoG1100024
Type Of FundingOther Public Sector - Commonwealth
Category2OPC
UONY

MicroRNA in Multiple Sclerosis$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2011
Funding Finish2011
GNoG1100271
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Elucidating genetic predispositions to Hereditary Non - Polyposis Colorectal Cancer (HNPCC)$55,500

Funding body: Australian Rotary Health

Funding bodyAustralian Rotary Health
Project TeamProfessor Rodney Scott
SchemeBowel Cancer Scholarship
RoleLead
Funding Start2011
Funding Finish2011
GNoG1100015
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Clinical know-how concerning risk profiling and patient aquisition$51,000

Funding body: CSIRO - Commonwealth Scientific and Industrial Research Organisation

Funding bodyCSIRO - Commonwealth Scientific and Industrial Research Organisation
Project TeamProfessor Rodney Scott
SchemeCollaborative Relationship Agreement
RoleLead
Funding Start2011
Funding Finish2011
GNoG1100468
Type Of FundingOther Public Sector - Commonwealth
Category2OPC
UONY

p53 isoforms, a prognostic indicator in breast cancer?$45,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Professor Rodney Scott, Professor John Forbes
SchemeBreast Cancer Project Grant
RoleInvestigator
Funding Start2011
Funding Finish2011
GNoG1001006
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Nucleotide excision repair gene expression in melanoma$35,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Nikola Bowden, Doctor Katie Ashton, Doctor Stephen Braye, Professor Rodney Scott, Dr Ricardo Vilain
SchemeProject Grant
RoleInvestigator
Funding Start2011
Funding Finish2011
GNoG1001057
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

20109 grants / $1,199,702

Molecular and cellular characterisation of schizophrenia associated dysfunction in microRNA biogenesis$478,500

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamConjoint Associate Professor Murray Cairns, Professor Rodney Scott, Associate Professor Paul Tooney, Emeritus Professor John Rostas, Professor Alan Brichta
SchemeProject Grant
RoleInvestigator
Funding Start2010
Funding Finish2010
GNoG0190196
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Systems Biology: Sequencing to functional analysis$370,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Rodney Scott, Professor Ronald Trent
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2010
Funding Finish2010
GNoG1000591
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

Genome wide copy number variant (CNV) analysis to discover novel genetic and epigenetic regulators of heritable and sporadic colorectal cancer$120,000

Funding body: CSIRO - Commonwealth Scientific and Industrial Research Organisation

Funding bodyCSIRO - Commonwealth Scientific and Industrial Research Organisation
Project TeamProfessor Rodney Scott
SchemeNational Research Flagship Project
RoleLead
Funding Start2010
Funding Finish2010
GNoG1000067
Type Of FundingOther Public Sector - Commonwealth
Category2OPC
UONY

HMRI MRSP Infrastructure Grant 09/10 - IBM$94,604

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Professor Pablo Moscato
SchemeNSW MRSP Infrastructure Grant
RoleLead
Funding Start2010
Funding Finish2010
GNoG1000560
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Schizophrenia research Institute Robotics Equipment Grant$50,000

Funding body: Schizophrenia Research Institute

Funding bodySchizophrenia Research Institute
Project TeamProfessor Rodney Scott
SchemeEquipment Grant
RoleLead
Funding Start2010
Funding Finish2010
GNoG1000417
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Epigenetic regulation of the CRH gene in gestational tissues$30,000

Funding body: BellBerry Limited

Funding bodyBellBerry Limited
Project TeamProfessor Roger Smith, Professor Rodney Scott, Conjoint Associate Professor Rick Nicholson, Conjoint Professor Tam Zakar
SchemeNear Miss
RoleInvestigator
Funding Start2010
Funding Finish2010
GNoG0900225
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Analysis of schizophrenia-associated gene and mircoRNA signatures in purified CD4 and CD8 positive T-cells$25,000

Funding body: Hunter Children`s Research Foundation

Funding bodyHunter Children`s Research Foundation
Project TeamConjoint Associate Professor Murray Cairns, Doctor Jing Qin Wu, Associate Professor Paul Tooney, Professor Rodney Scott
SchemeResearch Grant
RoleInvestigator
Funding Start2010
Funding Finish2010
GNoG0900188
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The identification of microRNA's as therapeutic targets for the treatment of advanced breast cancer$21,600

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kelly Kiejda, Professor Rodney Scott, Professor John Forbes
SchemeResearch Grant
RoleInvestigator
Funding Start2010
Funding Finish2010
GNoG0900144
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Genetic influences in colorectal cancer: a global consortium$9,998

Funding body: Hunter Children`s Research Foundation

Funding bodyHunter Children`s Research Foundation
Project TeamProfessor Rodney Scott, Professor John Attia, Mr Mark McEvoy
SchemeResearch Grant
RoleLead
Funding Start2010
Funding Finish2010
GNoG0900152
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

200913 grants / $2,343,376

Australian stroke genetics collaborative - Genome-wide association study in ischaemic stroke$1,108,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamConjoint Professor Chris Levi, Conjoint Associate Professor Jonathan Sturm, Professor John Attia, Professor Rodney Scott, Doctor Lisa Lincz, Dr Simon Koblar, Professor Pablo Moscato
SchemeProject Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0188856
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Mass array technology for the identification of genetic variation associated with cancer initiation and progression$260,000

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott, Professor Ronald Trent, Professor Ian Dawes
SchemeResearch Equipment Grant
RoleLead
Funding Start2009
Funding Finish2009
GNoG0189642
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Genome wide SNP associated study of childhood acute lymphoblastic leukaemia$140,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Nikola Bowden, Doctor Bente Talseth-Palmer
SchemePaediatric Oncology Project Grant
RoleLead
Funding Start2009
Funding Finish2009
GNoG0189790
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Study of c-Kit mutations in Familial Gastrointestinal Stromal Tumours, Melanoma and novel form of Waadenburg Syndrome$65,256

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamMr Ricardo Vilain, Professor Rodney Scott
SchemeScholarships - Medical and Dental Postgraduate Research
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0189436
Type Of FundingOther Public Sector - Commonwealth
Category2OPC
UONY

Search for modifier genes influencing breast cancer incidence in families diagnosed with hereditary nonpolyposis colorectal cancer$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Bente Talseth-Palmer, Professor Rodney Scott
SchemeBreast Cancer Project Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0189856
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Gene expression profiling of Xeroderma pigmentosum$45,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Nikola Bowden, Doctor Katie Ashton
SchemePostdoctoral Fellowship
RoleLead
Funding Start2009
Funding Finish2009
GNoG0900194
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

Study of c-KIT mutations in familial gastrointestinal stromal tumours and malignant melanoma$44,720

Funding body: Pfizer Australia

Funding bodyPfizer Australia
Project TeamMr Ricardo Vilain, Professor Rodney Scott, Emeritus Professor Leonie Ashman
SchemeCancer Research Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0189919
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

Identification of genetic modifiers of kidney disease$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Severine Roselli, Emeritus Professor Leonie Ashman, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0189793
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

First Australian Workshop on Bioinformatics for Biomarker Discovery$25,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Pablo Moscato, Professor Rodney Scott
SchemeSpecial Project Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0190622
Type Of FundingInternal
CategoryINTE
UONY

Sparke Helmore/NBN Television Corporate Triathlon Award for Research Excellence$15,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott
SchemeSparke Helmore/NBN Television Corporate Triathlon Award for Research Excellence
RoleLead
Funding Start2009
Funding Finish2009
GNoG0190649
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Vascular Ischaemia Study$10,400

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Chris Levi, Professor John Attia, Professor Rodney Scott, Doctor Michael Seldon, Doctor Lisa Lincz, Conjoint Associate Professor Jonathan Sturm
SchemeResearch Grant
RoleInvestigator
Funding Start2009
Funding Finish2009
GNoG0900120
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

200811 grants / $4,128,211

Neuro-behavioural genetics network research program$2,400,000

Funding body: NSW Health

Funding bodyNSW Health
Project TeamConjoint Professor Vaughan Carr, Professor Rodney Scott, Associate Professor Paul Tooney, Professor Brian Kelly, Conjoint Associate Professor Murray Cairns
SchemeProject Grant
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0189170
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Novel strategies for prediction and control of advanced breast cancer via nanoscaled epigenetic-based biosensors$1,200,000

Funding body: National Breast Cancer Foundation

Funding bodyNational Breast Cancer Foundation
Project TeamProfessor John Forbes, Professor Rodney Scott, Professor Matt Trau, Assoc. Prof Susan Clark, Dr Melissa Brown, Assoc. Prof Glenn Francis, Professor Alexander Dobrovic
SchemeCollaborative Breast Cancer Research Grant Program
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188685
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

HMRI Senior Research Fellow$160,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor John Attia, Emeritus Professor Maree Gleeson, Professor Rodney Scott, Conjoint Professor Vaughan Carr, Conjoint Professor Stephen Ackland, Professor Michael Hazelton, Professor Trevor Day
SchemeSenior Fellowship
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188558
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Gene expression profiling of xeroderma pigmentosum$100,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Nikola Bowden
SchemePostdoctoral Fellowship
RoleLead
Funding Start2008
Funding Finish2008
GNoG0188353
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

Advanced high throughput functional genomics and gene mapping$88,211

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Rodney Scott
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2008
Funding Finish2008
GNoG0189043
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

The complex genetics of multiple sclerosis$75,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Conjoint Associate Professor Jeannette Lechner-Scott
SchemeMacquarie Group Foundation PhD Scholarship in Information Based Medicine
RoleLead
Funding Start2008
Funding Finish2008
GNoG0189689
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The effects of iron status on calcium handling systems in heart and brain$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamAssociate Professor Derek Laver, Associate Professor Liz Milward, Professor Dirk Van Helden, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188463
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Brain Science and Young People's Mental Health: A gene expression study in young people at ultra high risk of developing schizophrenia$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamAssociate Professor Paul Tooney, Emeritus Professor Patricia Michie, Professor Ulli Schall, Professor Rodney Scott, Associate Professor Helen Stain, Doctor Rebbekah Atkinson
SchemeProject Grant
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188475
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Identification of novel markers in paediatric acute lymphoblastic leukaemia; investigation of DNA methylations and non-coding small microRNAs $20,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Kyu-Tae Kim, Professor Rodney Scott
SchemePaediatric Oncology Project Grant
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188477
Type Of FundingGrant - Aust Non Government
Category3AFG
UONY

Genome wide SNP association study of childhood acute lymphoblastic leukaemia$20,000

Funding body: Hunter Children`s Research Foundation

Funding bodyHunter Children`s Research Foundation
Project TeamDoctor Nikola Bowden, Professor Rodney Scott, Doctor Bente Talseth-Palmer
SchemePaediatric Oncology Project Grant
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188483
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

PULSE Research Exchange$15,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott
SchemePULSE Research Exchange
RoleInvestigator
Funding Start2008
Funding Finish2008
GNoG0188563
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

20076 grants / $917,057

HMRI Emerging Research program - Information based medicine$624,044

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Professor Pablo Moscato
SchemeNSW MRSP Infrastructure Grant
RoleLead
Funding Start2007
Funding Finish2007
GNoG0187945
Type Of FundingOther Public Sector - State
Category2OPS
UONY

Application of novel exact combinatorial optimisation techniques and metaheuristic methods for problems in cancer research$238,291

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Pablo Moscato, Professor Rodney Scott, Dr Michael Langston
SchemeDiscovery Projects
RoleInvestigator
Funding Start2007
Funding Finish2007
GNoG0186327
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

(8) PRC - Priority Research Centre for Bioinformatics, Biomarker Discovery & Information-Based Medicine (CIBM)$21,532

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott, Professor Pablo Moscato
SchemePublication Performance Grant
RoleLead
Funding Start2007
Funding Finish2007
GNoG0187968
Type Of FundingInternal
CategoryINTE
UONY

Gene expression profiling of xeroderma pigmentosum$20,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Nikola Bowden, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2007
Funding Finish2007
GNoG0187261
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Microarray analyses of genes important in iron regulation and related disorders$8,190

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamAssociate Professor Liz Milward, Professor Rodney Scott
SchemePilot Grant
RoleInvestigator
Funding Start2007
Funding Finish2007
GNoG0187902
Type Of FundingInternal
CategoryINTE
UONY

Genetic polymorphisms in the native thrombolytic systems as risk factors for ischaemic stroke.$5,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Chris Levi, Professor John Attia, Professor Rodney Scott, Dr Amanda Thrift
SchemeResearch Grant
RoleInvestigator
Funding Start2007
Funding Finish2007
GNoG0187320
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

200610 grants / $2,417,275

Advanced technology for transcriptomics, genomics and gene mapping$850,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Rodney Scott, Professor Ian Dawes, Professor Ronald Trent, Professor Nicholas Hunt, Emeritus Professor Peter Bergquist, Professor Mark Baker, Emeritus Professor Peter Dunkley, Dr Ruby Lin, Conjoint Professor Peter Gibson, Professor Alistair Sim
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2006
Funding Finish2006
GNoG0185547
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

Breast Cancer Tissue Bank$550,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamProfessor Rodney Scott
SchemeEnabling Grants - Clinical Trials Resources
RoleLead
Funding Start2006
Funding Finish2006
GNoG0187201
Type Of FundingOther Public Sector - Commonwealth
Category2OPC
UONY

The Effects of Genetic Background and Cigarette Smoke on Inflammatory Responses Implicated in Sudden Infant Death Syndrome$307,136

Funding body: Foundation for the Study of Infant Deaths

Funding bodyFoundation for the Study of Infant Deaths
Project TeamConjoint Professor Caroline Blackwell, Emeritus Professor Maree Gleeson, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2006
Funding Finish2006
GNoG0186233
Type Of FundingInternational - Competitive
Category3IFA
UONY

Investigation of miRNAs in schizophrenia$20,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamConjoint Associate Professor Murray Cairns, Associate Professor Paul Tooney, Professor Rodney Scott
SchemePilot Grant
RoleInvestigator
Funding Start2006
Funding Finish2006
GNoG0186685
Type Of FundingInternal
CategoryINTE
UONY

Application of novel parameterized complexity techniques to problems in functional genomics$19,946

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Pablo Moscato, Professor Rodney Scott
SchemeNear Miss Grant
RoleInvestigator
Funding Start2006
Funding Finish2006
GNoG0186046
Type Of FundingInternal
CategoryINTE
UONY

Genetic susceptibility in Endometrial Cancer$15,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamDoctor Katie Ashton, Professor Rodney Scott
SchemeSpecial Competitive Research Fund for Early Career Researchers in Cancer
RoleInvestigator
Funding Start2006
Funding Finish2006
GNoG0186110
Type Of FundingNot Known
CategoryUNKN
UONY

In vitro assessment of genetic and environmental risk factors for SIDS$14,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Caroline Blackwell, Professor Rodney Scott, Emeritus Professor Maree Gleeson
SchemeProject Grant
RoleInvestigator
Funding Start2006
Funding Finish2006
GNoG0186556
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Genetic origins of childhood cancer$11,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Bente Talseth-Palmer
SchemeProject Grant
RoleLead
Funding Start2006
Funding Finish2006
GNoG0186093
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Identification of single nucleotide polymorphisms that are associated with an increased risk of colectoral cancer$9,050

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott, Professor Robyn Ward, Assoc. Prof Nicholas Hawkins, Professor John Attia, Conjoint Professor David Sibbritt, Professor Pablo Moscato
SchemeNear Miss Grant
RoleLead
Funding Start2006
Funding Finish2006
GNoG0186073
Type Of FundingInternal
CategoryINTE
UONY

20057 grants / $689,488

Evolutionary algorithms for problems in functional genomics data analysis$218,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Pablo Moscato, Professor Rodney Scott, Associate Professor Regina Berretta
SchemeDiscovery Projects
RoleInvestigator
Funding Start2005
Funding Finish2005
GNoG0184416
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Phenotype genotype comparisons using functional genomic approaches$110,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Rodney Scott
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2005
Funding Finish2005
GNoG0185620
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

Genetic polymorphisms in the native thrombolytic and thrombotic systems as risk factors for ischaemic stroke$106,488

Funding body: National Heart Foundation of Australia

Funding bodyNational Heart Foundation of Australia
Project TeamConjoint Professor Chris Levi, Professor John Attia, Professor Rodney Scott, Dr Amanda Thrift
SchemeGrant-In-Aid
RoleInvestigator
Funding Start2005
Funding Finish2005
GNoG0184034
Type Of FundingAust Competitive - Non Commonwealth
Category1NS
UONY

CGH array analysis of childhood cancers$75,000

Funding body: Cancer Institute NSW

Funding bodyCancer Institute NSW
Project TeamProfessor Rodney Scott
SchemeResearch Scholars Award
RoleLead
Funding Start2005
Funding Finish2005
GNoG0185377
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The maintenance of genetic integrity by DNA repair$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott
SchemeNBN Childrens Cancer Research Scholarship
RoleLead
Funding Start2005
Funding Finish2005
GNoG0185369
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

Genetic gains and losses associated with childhood cancer$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott
SchemeNBN Childrens Cancer Research Scholarship
RoleLead
Funding Start2005
Funding Finish2005
GNoG0185374
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

Genetic determinants of gene expression$60,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott
SchemeNBN Childrens Cancer Research Scholarship
RoleLead
Funding Start2005
Funding Finish2005
GNoG0185375
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

20043 grants / $259,337

Nature, nuture and acute childhood lymphoblastic leukaemia$193,500

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamProfessor Rodney Scott, Professor John Attia
SchemeProject Grant
RoleLead
Funding Start2004
Funding Finish2004
GNoG0183209
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Molecular Pathogensis of Non-Eosinphilic Asthma$37,837

Funding body: Asthma Foundation of New South Wales

Funding bodyAsthma Foundation of New South Wales
Project TeamConjoint Professor Peter Gibson, Professor Rodney Scott, Doctor Katie Baines
SchemePhD Scholarships
RoleInvestigator
Funding Start2004
Funding Finish2004
GNoG0183715
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

Novel genetic and environmental risk factors in atherothrombosis: The role of variation in Cox-2, tpA and PAI-1 activity$28,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Chris Levi, Conjoint Professor David Henry, Dr Patricia McGettigan, Professor John Attia, Professor Mark Parsons, Dr Michael Seldon, Professor Rodney Scott
SchemeResearch Grant
RoleInvestigator
Funding Start2004
Funding Finish2004
GNoG0183749
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

20034 grants / $516,650

Non-eosinophilic asthma: mechanisms and treatment$430,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamConjoint Professor Peter Gibson, Conjoint Associate Professor Michael Boyle, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start2003
Funding Finish2003
GNoG0181776
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Continuing the search for the elusive caujavascript:closeProject();sjavascript:closeProject();es of autism$40,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamConjoint Professor Gillian Turner, Dr L Banna, Professor Rodney Scott, Ms Kerry Fagan
SchemeJohn Hunter Childrens Hospital Research Foundation
RoleInvestigator
Funding Start2003
Funding Finish2003
GNoG0183639
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Sievers NOA 280i Nitric Oxide Analyser$36,650

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamConjoint Professor Peter Gibson, Conjoint Associate Professor Vicki Clifton, Conjoint Associate Professor Michael Boyle, Professor Rodney Scott
SchemeEquipment Grant
RoleInvestigator
Funding Start2003
Funding Finish2003
GNoG0183059
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

The role of MYH gene mutations in persons who have developed early onset colectoral cancer$10,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott
SchemeResearch Grant
RoleLead
Funding Start2003
Funding Finish2003
GNoG0183748
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

20028 grants / $1,341,332

The Molecular Analysis of Variation and Gene Function.$545,000

Funding body: ARC (Australian Research Council)

Funding bodyARC (Australian Research Council)
Project TeamProfessor Rodney Scott, Laureate Professor John Aitken
SchemeLinkage Infrastructure Equipment & Facilities (LIEF)
RoleLead
Funding Start2002
Funding Finish2002
GNoG0181518
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

Proteomic and Genomic Analysis Facility.$473,332

Funding body: Wellcome Trust

Funding bodyWellcome Trust
Project TeamProfessor Alistair Sim, Emeritus Professor Peter Dunkley, Emeritus Professor John Rostas, Professor Rodney Scott, Emeritus Professor Leonie Ashman
SchemeMajor Equipment Award
RoleInvestigator
Funding Start2002
Funding Finish2002
GNoG0181527
Type Of FundingScheme excluded from IGS
CategoryEXCL
UONY

A nested case control study evaluating the association between the factor V Leiden genotype and adverse pregnancy outcome$165,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamProfessor Rodney Scott
SchemeProject Grant
RoleLead
Funding Start2002
Funding Finish2002
GNoG0180916
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

The Genetics of Schizophrenia.$60,000

Funding body: Neuroscience Institute of Schizophrenia and Allied Disorders

Funding bodyNeuroscience Institute of Schizophrenia and Allied Disorders
Project TeamAssociate Professor Paul Tooney, Professor Rodney Scott
SchemePostgraduate Research Scholarship
RoleInvestigator
Funding Start2002
Funding Finish2002
GNoG0182268
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

The role of tachykinins and their receptors in schizophrenia: An investigation at a cellular and genetic level.$60,000

Funding body: Neuroscience Institute of Schizophrenia and Allied Disorders

Funding bodyNeuroscience Institute of Schizophrenia and Allied Disorders
Project TeamAssociate Professor Paul Tooney, Conjoint Professor Loris Chahl, Professor Rodney Scott
SchemePostgraduate Research Scholarship
RoleInvestigator
Funding Start2002
Funding Finish2002
GNoG0182269
Type Of FundingDonation - Aust Non Government
Category3AFD
UONY

The development of microarray technology for biomedical research in the Hunter Region.$21,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamAssociate Professor Paul Tooney, Doctor Douglas Dorahy, Professor Rodney Scott
SchemeResearch Grant
RoleInvestigator
Funding Start2002
Funding Finish2002
GNoG0181184
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

The use of DNA arrays to determine genetic changes in cells that are deficient in nucleotide excision repair$10,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott
SchemeProject Grant
RoleLead
Funding Start2002
Funding Finish2002
GNoG0181268
Type Of FundingInternal
CategoryINTE
UONY

Development of a test to determine the functional activity of genes associated with bowel cancer predisposition$7,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott, Conjoint Professor Allan Spigelman
SchemeProject Grant
RoleLead
Funding Start2002
Funding Finish2002
GNoG0181267
Type Of FundingInternal
CategoryINTE
UONY

20011 grants / $40,000

The Genetic Origins of Childhood Cancer.$40,000

Funding body: John Hunter Children`s Hospital Research Foundation

Funding bodyJohn Hunter Children`s Hospital Research Foundation
Project TeamProfessor Rodney Scott, Professor John Attia, Doctor Frank Alvaro
SchemeResearch Grant (Defunct)
RoleLead
Funding Start2001
Funding Finish2001
GNoG0181219
Type Of FundingOther Public Sector - State
Category2OPS
UONY

20002 grants / $182,505

Characterisation of Pituitary Target Autoantigens.$170,505

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamConjoint Associate Professor Patricia Crock, Professor Rodney Scott, Conjoint Associate Professor Bruce King
SchemeProject Grant
RoleInvestigator
Funding Start2000
Funding Finish2000
GNoG0178451
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Characterization of a new genetic locus for inherited colorectal cancer predispositions$12,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott, Conjoint Professor Allan Spigelman
SchemeProject Grant
RoleLead
Funding Start2000
Funding Finish2000
GNoG0178861
Type Of FundingInternal
CategoryINTE
UONY

19994 grants / $417,608

MOLECULAR ANALYSIS OF CELL MOVEMENT IN MELANOMA$374,608

Funding body: NHMRC (National Health & Medical Research Council)

Funding bodyNHMRC (National Health & Medical Research Council)
Project TeamProfessor Gordon Burns, Conjoint Professor Peter Hersey, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start1999
Funding Finish1999
GNoG0177914
Type Of FundingAust Competitive - Commonwealth
Category1CS
UONY

Investigation of the cellular checkpoint proteins in desmoid tumour cells, derived from patients with familial adenomatous polyposis.$25,000

Funding body: Hunter Medical Research Institute

Funding bodyHunter Medical Research Institute
Project TeamProfessor Rodney Scott, Doctor Benjamin Curry
SchemeResearch Grant
RoleLead
Funding Start1999
Funding Finish1999
GNoG0179047
Type Of FundingContract - Aust Non Government
Category3AFC
UONY

Frequency of mutant sperm in men of different ages.$11,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamConjoint Associate Professor Matthew Edwards, Professor Rodney Scott
SchemeProject Grant
RoleInvestigator
Funding Start1999
Funding Finish1999
GNoG0178153
Type Of FundingInternal
CategoryINTE
UONY

The role of nonsense mediated mRNA decay in determining the disease phenotype in the inherited predisposition to colorectal cancer, familial adenomatous polypos$7,000

Funding body: University of Newcastle

Funding bodyUniversity of Newcastle
Project TeamProfessor Rodney Scott
SchemeProject Grant
RoleLead
Funding Start1999
Funding Finish1999
GNoG0178126
Type Of FundingInternal
CategoryINTE
UONY
Edit

Research Supervision

Current Supervision

CommencedResearch Title / Program / Supervisor Type
2015The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine
Principal Supervisor
2015The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine
Principal Supervisor
2015Investigating Novel Co-molecular Lesions of TP-53 in Serous Adeno Carcinomas and Their Role in DNA Damage
Medical Science, Faculty of Health and Medicine
Co-Supervisor
2015To assess the role of IFNe in modulating innate immune responses and protecting against Chlamydia infection in human tissues
Microbiology, Faculty of Health and Medicine
Co-Supervisor
2015Biomarkers for Circulating Ovarian Cancer Cells: A Prognostic and Therapeutic Approach
Medical Science, Faculty of Health and Medicine
Co-Supervisor
2015The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine
Principal Supervisor
2014The Similarities and Differences of Genomic Re-Arrangements in Paediatric Verses Adult Haematological Malignancies
Health, Faculty of Health and Medicine
Co-Supervisor
2014Investigating the Genetic Cause of Overgrowth Syndromes
Health, Faculty of Health and Medicine
Principal Supervisor
2014To Be Advised
Human Biology, Faculty of Health and Medicine
Co-Supervisor
2014Chronic Obstructive Pulmonary Disease (COPD)
Microbiology, Faculty of Health and Medicine
Co-Supervisor
2013Nucleotide Excision Repair and UVB-Induced DNA Damage in Melanoma Development
Health, Faculty of Health and Medicine
Co-Supervisor
2012Investigating the Mechanisms of Tobacco Cigarette Smoke-Induced Lung Cancer
Microbiology, Faculty of Health and Medicine
Co-Supervisor
2012Examining Nucleotide Excision Repair Genes in Melanoma
Health, Faculty of Health and Medicine
Co-Supervisor
2012p53 Isoforms in Breast Cancer
Health, Faculty of Health and Medicine
Co-Supervisor
2012The Functional Role of MicroRNAs Associated With Lymph Node Metastasis in Triple Negative Breast Cancer
Health, Faculty of Health and Medicine
Principal Supervisor
2012Genetic and Non-Genetic Studies of Type 2 Diabetes in Three Susceptible Asian Populations: Malay, Chinese and Indian
Health, Faculty of Health and Medicine
Co-Supervisor
2012Assessing the Epigenetic Involvement in the Development and Progression of Chronic Obstructive Pulmonary Disease (COPD)
Microbiology, Faculty of Health and Medicine
Co-Supervisor
2011Copy Number Variants and Their Role in Hereditary Breast and Colorectal Cancers
Health, Faculty of Health and Medicine
Principal Supervisor
2010Epigenetic Variations and Psychosocial Parameters in Relapsing-Remitting Multiple Sclerosis
General Medicine, Faculty of Health and Medicine
Co-Supervisor
2010Role of Tandem Repeats in Genetic Susceptibility to Breast Cancer
Health, Faculty of Health and Medicine
Principal Supervisor
2009Epigenetic Regulation of the CRH Gene in Pregnancy
General Medicine, Faculty of Health and Medicine
Co-Supervisor
2007Genetic Susceptibility to Meningococcal Disease in a Greek Population
Genetics, University of Newcastle
Co-Supervisor

Past Supervision

YearResearch Title / Program / Supervisor Type
2015ProNGF/NGF and Nerve Infiltration in Prostate and Breast Cancer
Medical Science, Faculty of Health and Medicine
Co-Supervisor
2014The Contribution of Genetic Susceptibility to Breast Cancer
Health, Faculty of Health and Medicine
Principal Supervisor
2014The Relationship Between Early Alzheimer's Disease, Apolipoprotein E Genotyping & Hippocampal MRI Volumes
Public Health, Faculty of Health and Medicine
Co-Supervisor
2013The Complex Genetics of Multiple Sclerosis
Health, Faculty of Health and Medicine
Principal Supervisor
2013Activating Kinase Mutations in Melanoma
Health, Faculty of Health and Medicine
Principal Supervisor
2012Modifier Genes in Lynch Syndrome: Functional Genomics and its Consequence on Disease Expression
Health, Faculty of Health and Medicine
Sole Supervisor
2011Microarray Studies of Genome-Wide Changes in Brain and Heart Gene Expression in Mouse Models of Iron Overload
Health, Faculty of Health and Medicine
Co-Supervisor
2011Susceptibility to and Severity of Inflammatory-related Diseases in Indigenous Australians; An In Vitro Investigation of Associated Environmental and Genetic Risk Factors
Microbiology, Faculty of Health and Medicine
Principal Supervisor
2011Mechanisms of Epigenetic Regulation of Gene Expression in Colorectal Cancer Cells
Health, Faculty of Health and Medicine
Sole Supervisor
2011Epigenetic Modification in Human Male Germ Line
Health, Faculty of Health and Medicine
Co-Supervisor
2010Autoantibody Targets in Autoimmune Polyendocrine Syndrome Type 1 and Lymphocytic Hypophysitis
General Medicine, Faculty of Health and Medicine
Co-Supervisor
2009Genetic Variation and Risk of Endometrial Cancer
Health, Faculty of Health and Medicine
Sole Supervisor
2009Genetic Variations in the Base Excision Repair Gene Mutyh and its Relationship with Two Common Malignancies
Health, Faculty of Health and Medicine
Principal Supervisor
2008Molecular Pathogenesis of Non - Eosinophilic Asthma
Health, Faculty of Health and Medicine
Co-Supervisor
2007Genetic Variation and Its Role in Malignancy
Health, Faculty of Health and Medicine
Sole Supervisor
2006Investigation of Cellular and Molecular Changes in the Amygdala in Schizophrenia
Medical Science, Faculty of Health and Medicine
Co-Supervisor
2006X chromosome inactivation patterns in mothers of autistic children and obligate carriers of X-linked mental retardation.
Genetics, University of Newcastle
Co-Supervisor
2006Gene Expression Profiling in Schizophrenia
Health, Faculty of Health and Medicine
Principal Supervisor
2006APE and its role in DNA mismatch repair
Genetics, University of Newcastle
Sole Supervisor
2006Gene expression profiling in familial adenomatous polyposis and desmoid disease
Genetics, University of Newcastle
Sole Supervisor
2006The functional significance of 9 new SNPs identified in teh CRH gene
Genetics, University of Newcastle
Co-Supervisor
2004Polymorphisms in APC and their relation to site specific disease
Genetics, University of Newcastle
Sole Supervisor
2004DNMT3b mutation analysis in HNPCC patients
Genetics, University of Newcastle
Sole Supervisor
2004Modifier gene polymorphisms and their influence on disease expression in HNPCC
Genetics, University of Newcastle
Sole Supervisor
2004A molecular genetic study of modifier genes and their influence on disease expression in mutation positive HNPCC Patients
Genetics, University of Newcastle
Co-Supervisor
2003cytokine gene polymorphisms in sudden infant death syndrome (SIDS) and ethnic groups with varying incidences of SIDS
Genetics, University of Newcastle
Co-Supervisor
2002Screening a second candidate gene for Peutz-Jeghers syndrome
Genetics, University of Newcastle
Sole Supervisor
2002The role of PMS2 and EXO1 in defining HNPCC
Genetics, University of Newcastle
Sole Supervisor
2002Analysis of colorectal cancer cell lines using an integrated molecular cytogenetic approach
Genetics, University of Newcastle
Co-Supervisor
2001Nucleotide excision repair and UV-light sensitivity
Genetics, University of Newcastle
Sole Supervisor
2001Redefining the Peutz-Jeghers syndrome locus by fine mapping of the chromosome 19P region in the vicinity of the STK11 gene
Genetics, University of Newcastle
Sole Supervisor
2001Mental retardation may result from an abnormal copy number of the telomeric region of Xp: a study using Xp and Yp subtelomeric FISH probes.
Genetics, University of Newcastle
Consultant Supervisor
2001The hMSH6 gene and its association with disease expression in hereditary non-polyposis colorectal cancer
Genetics, University of Newcastle
Sole Supervisor
2001Mutation analysis of the BRCA2 gene in ocular melanoma
Genetics, University of Newcastle
Co-Supervisor
1999Development of a semi-functional yeast assasy for assigning a causative role to hMSH2 mutations in hereditary non-polyposis colorectal cancer
Genetics, University of Newcastle
Sole Supervisor
1998Mutation analysis of the MEN1 gene in apparent sporadic and familial cases of multiple endocrine neoplasia type 1
Genetics, University of Newcastle
Sole Supervisor
Edit

News

breast cancer gene breakthrough

Breast cancer gene breakthrough

February 24, 2015

Hunter researchers have identified a significant new risk factor for triple-negative breast cancer (TNBC), impacting women who would currently fall outside genetic testing benchmarks for the disease.

brain cancer biobank

Brain cancer biobank

October 29, 2014

A new "biobank" for brain cancer is being established at the Hunter Medical Research Institute courtesy of funding from the Mark Hughes Foundation (MHF).

schizophrenia

Landmark schizophrenia genetic study

July 23, 2014

UON researchers have helped unearth more than 100 genetic variants associated with schizophrenia, after contributing to the largest genome-wide study of the disease ever conducted.

Professor Rodney Scott

New sequencer turbo-charges cancer risk diagnosis

April 9, 2014

A HMRI genetics laboratory at Newcastle's John Hunter Hospital has become the first in Australia, and one of the few in the world, to receive accreditation for a new diagnostic system that revolutionises 'NextGen' DNA sequencing for breast and ovarian cancer.

HMRI

New study shows genetic role in education

May 31, 2013

A multinational consortium of medical researchers and social scientists has found a link between educational attainment and tiny variations in a person's genetic sequence.

Professor Rodney Scott

Position

Professor
School of Biomedical Sciences and Pharmacy
Faculty of Health and Medicine

Focus area

Medical Genetics

Contact Details

Emailrodney.scott@newcastle.edu.au
Phone(02) 4921 4974
Mobile 0409926764
Fax(02) 4921 4253

Office

BuildingHunter Area Pathology Service
LocationRm 2003, HAPS

,
Edit