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

060199Biochemistry and Cell Biology not elsewhere classified35
060499Genetics not elsewhere classified35
110399Clinical Sciences not elsewhere classified30


For publications that are currently unpublished or in-press, details are shown in italics.

Journal article (8 outputs)

2012Voineagu 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]
CitationsScopus - 9
2011Jensen 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]
CitationsScopus - 11Web of Science - 10
2009Tarpey 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]
CitationsScopus - 254Web of Science - 240
2008Hackett AK, Gillard J, Wilcken B, 'n of 1 trial for an ornithine transcarbamylase deficiency carrier', Molecular Genetics and Metabolism, 94 157-161 (2008) [C1]
CitationsScopus - 3Web of Science - 4
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]
CitationsScopus - 95Web of Science - 91
Co-authorsRodney Scott
2006Hackett AK, Rowe LJ, 'FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report', Clinical Dysmorphology, 15 207-210 (2006) [C3]
2001Biswas 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]
CitationsWeb of Science - 171
2000Hackett 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]
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Conference (4 outputs)

2009Shoubridge 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, Bahia, Brazil (2009) [E3]
2005McKenzie 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, Newcastle (2005) [E3]
2005Hackett AK, Gillard J, 'n=1 trial for an ornithine transcarbamylase deficiency carrier', Human Genetics Society of Australasia, Newcastle (2005) [E3]
2004Field M, Hackett AK, 'Utilisation and cost of genetic testing for the Hunter Genetics Service', Conference Abstract, Fremantle, Western Australia (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

Phone(02) 4925 3100
Fax(02) 4925 3133


BuildingNewcastle Western Suburbs Hospital