Staff Profile


Career Summary


Research keywords

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

Research expertise

X linked intellectual disability

Fields of Research

060199Biochemistry And Cell Biology Not Elsewhere Classified35
110300Clinical Sciences30


For publications that are currently unpublished or in-press, details are shown in italics.

Click on a category title below to expand the list of citations for that specific category.

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

No funding.


Research Supervision

Number of current supervisions0

No Supervisions.


Dr Anna Hackett

Work Phone(02) 4925 3100
Fax(02) 4925 3133
PositionConjoint Senior Lecturer
School of Biomedical Sciences and Pharmacy
Faculty of Health and Medicine
The University of Newcastle, Australia
Focus AreaMedical Genetics
Newcastle Western Suburbs Hospital,