Dr Anna Hackett

Conjoint Senior Lecturer

School of Biomedical Sciences and Pharmacy (Medical Genetics)

Career Summary


Research Expertise
X linked intellectual disability


  • Clinical Sciences and Genetics
  • Intellectual Disability
  • Paediatrics and Reproduction
  • X Chromosome

Fields of Research

Code Description Percentage
060499 Genetics not elsewhere classified 35
110399 Clinical Sciences not elsewhere classified 30
060199 Biochemistry and Cell Biology not elsewhere classified 35


For publications that are currently unpublished or in-press, details are shown in italics.

Journal article (8 outputs)

Year Citation Altmetrics Link
2012 Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, et al., 'CCDC22: A novel candidate gene for syndromic X-linked intellectual disability', Molecular Psychiatry, 17 4-7 (2012) [C1]
Citations Scopus - 16
2011 Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, et al., 'Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1', European Journal of Human Genetics, 19 717-720 (2011) [C1]
Citations Scopus - 13Web of Science - 12
2009 Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al., 'A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation', Nature Genetics, 41 535-543 (2009) [C1]
DOI 10.1038/ng.367
Citations Scopus - 309Web of Science - 283
2008 Hackett AK, Gillard J, Wilcken B, 'n of 1 trial for an ornithine transcarbamylase deficiency carrier', Molecular Genetics and Metabolism, 94 157-161 (2008) [C1]
DOI 10.1016/j.ymgme.2008.02.001
Citations Scopus - 4Web of Science - 5
2008 Froyen 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]
DOI 10.1016/j.ajhg.2007.11.002
Citations Scopus - 111Web of Science - 106
Co-authors Rodney Scott
2006 Hackett AK, Rowe LJ, 'FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report', Clinical Dysmorphology, 15 207-210 (2006) [C3]
Citations Web of Science - 10
2001 Biswas S, Munier F, Yardley J, Hart-Holden N, Perveen R, Cousin P, et al., 'Missense mutation in COL8A2, the gene encoding the 2 chain type of type VIII collagen, cause two forms of corneal endothelial dystrophy', Human Molecular Genetics, 10 (21) 2415-2423 (2001) [C1]
Citations Web of Science - 195
2000 Hackett AK, Giles W, James S, 'Successful vaginal delivery in a woman with amyoplasia', Australian and New Zealand Journal of Obstetrics and Gynaecology, 40;4 461-463 (2000) [C1]
Show 5 more journal articles

Conference (4 outputs)

Year Citation Altmetrics Link
2009 Shoubridge C, Tarpey P, Abidi F, Rujirabanjerd S, Boyle J, Shaw M, et al., 'Mutations in IQSEC2, a guanine nucleotide exchange factor for ARF6, cause non-syndromic mental retardation', 14th International Workshop on Fragile X and X-Linked Mental Retardation: Abstracts (2009) [E3]
2005 McKenzie F, Dudding TE, Edwards MJ, Giles WB, Hackett AK, Somerset D, Woodford P, 'Review of late fetal loss in the Hunter and proposed strategies for investigation', Human Genetics Society of Australasia (2005) [E3]
Co-authors Tracy Dudding
2005 Hackett AK, Gillard J, 'n=1 trial for an ornithine transcarbamylase deficiency carrier', Human Genetics Society of Australasia (2005) [E3]
2004 Field M, Hackett AK, 'Utilisation and cost of genetic testing for the Hunter Genetics Service', Conference Abstract (2004) [E3]
Show 1 more conference

Dr Anna Hackett


Conjoint Senior Lecturer
School of Biomedical Sciences and Pharmacy
Faculty of Health and Medicine

Focus area

Medical Genetics

Contact Details

Email anna.hackett@newcastle.edu.au
Phone (02) 4925 3100
Fax (02) 4925 3133


Building Newcastle Western Suburbs Hospital
Location Other