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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

  • Downie, L, Halliday, J, Lewis, S, Amor, DJ. Principles of Genomic Newborn Screening Programs. JAMA Network Open 4(7) : e2114336 2021
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  • Consortium, TIMR, Win, AK, Dowty, JG, Reece, JC, Lee, G, Templeton, AS, Plazzer, J-P, Buchanan, DD, Akagi, K, Aksoy, S, et al. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. The Lancet Oncology 22(7) : 1014 -1022 2021
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  • Voisin, N, Schnur, RE, Douzgou, S, Hiatt, SM, Rustad, CF, Brown, NJ, Earl, DL, Keren, B, Levchenko, O, Geuer, S, et al. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. American Journal of Human Genetics 108(5) : 857 -873 2021
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  • Valente, GM, Amor, DJ, Ioannou, LJ, Archibald, AD. Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis. Australian and New Zealand Journal of Obstetrics and Gynaecology 61(2) : 232 -238 2021
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  • Brignell, A, Gu, C, Holm, A, Carrigg, B, Sheppard, DA, Amor, DJ, Morgan, AT. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome. European Journal of Human Genetics 29(4) : 564 -574 2021
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