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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

  • Stutterd, C, Diakumis, P, Bahlo, M, Fernandez, MF, Leventer, RJ, Delatycki, M, Amor, D, Chow, CW, Stephenson, S, Meisler, MH, et al. Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14. Annals of Clinical and Translational Neurology 4(12) : 859 -864 2017
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  • Halliday, JL, Muggli, E, Lewis, S, Elliott, EJ, Amor, DJ, O'Leary, C, Donath, S, Forster, D, Nagle, C, Craig, JM, et al. Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years. Journal of Epidemiology & Community Health 71(10) : 990 2017
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  • Amor, DJ, Lewis, S, Kennedy, J, Habgood, E, McBain, J, McLachlan, RI, Rombauts, LJ, Williams, K, Halliday, J. Health outcomes of school-aged children conceived using donor sperm. Reproductive BioMedicine Online 35(4) : 445 -452 2017
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  • Amyere, M, Revencu, N, Helaers, R, Pairet, E, Baselga, E, Cordisco, M, Chung, W, Dubois, J, Lacour, J-P, Martorell, L, et al. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation 136(11) : 1037 -1048 2017
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  • Downie, L, Halliday, JL, Burt, RA, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Sung, V, Wake, M, et al. A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort. BMJ Paediatrics Open 1(1) : e000119 2017
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