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Details

Role Group Leader / Honorary Fellow Manager
Research area Clinical Sciences

Contact

Available for student supervision
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.

Top Publications

  • Tan, TY, Collins, A, James, PA, McGillivray, G, Stark, Z, Gordon, CT, Leventer, RJ, Pope, K, Forbes, R, Crolla, JA, et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. American Journal of Medical Genetics Part A 155(7) : 1623 -1633 2011
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  • Wilson, CL, Fisher, JR, Hammarberg, K, Amor, DJ, Halliday, JL. Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART. Human Reproduction 26(5) : 1209 -1219 2011
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  • Mill, P, Lockhart, PJ, Fitzpatrick, E, Mountford, HS, Hall, EA, Reijns, MAM, Keighren, M, Bahlo, M, Bromhead, CJ, Budd, P, et al. Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis. American Journal of Human Genetics 88(4) : 508 -515 2011
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  • Jaques, AM, Amor, DJ, Baker, HWG, Healy, DL, Ukoumunne, OC, Breheny, S, Garrett, C, Halliday, JL. Adverse Obstetric and Perinatal Outcomes in Subfertile Women Conceiving Without Assisted Reproductive Technologies. Obstetrical & Gynecological Survey 66(4) : 203 -204 2011
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  • McClaren, BJ, Metcalfe, SA, Amor, DJ, Aitken, M, Massie, J. A case for cystic fibrosis carrier testing in the general population. The Medical Journal of Australia 194(4) : 208 -209 2011
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