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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

  • Baker, EK, Godler, DE, Bui, M, Hickerton, C, Rogers, C, Field, M, Amor, DJ, Bretherton, L. Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes. Journal of Neurodevelopmental Disorders 10(1) : 24 2018
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  • Mohandas, N, Bass-Stringer, S, Maksimovic, J, Crompton, K, Loke, YJ, Walstab, J, Reid, SM, Amor, DJ, Reddihough, D, Craig, JM. Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation. Clinical Epigenetics 10(1) : 25 2018
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  • Kraan, CM, Bui, QM, Field, M, Archibald, AD, Metcalfe, SA, Christie, LM, Bennetts, BH, Oertel, R, Smith, MJ, du Sart, D, et al. FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts. Genetics in Medicine 20(12) : 1627 -1634 2018
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  • Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al. The Genetic Landscape of Diamond-Blackfan Anemia. American Journal of Human Genetics 103(6) : 930 -947 2018
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  • Amor, DJ, Kerr, A, Somanathan, N, McEwen, A, Tome, M, Hodgson, J, Lewis, S. Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors. Reproductive Health 15(1) : 26 2018
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