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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