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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

  • Kraan, CM, Date, P, Rattray, A, Sangeux, M, Bui, QM, Baker, EK, Morison, J, Amor, DJ, Godler, DE. Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes. Journal of Intellectual Disability Research 66(8-9) : 717 -725 2022
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  • Barbier, M, Bahlo, M, Pennisi, A, Jacoupy, M, Tankard, RM, Ewenczyk, C, Davies, KC, Lino‐Coulon, P, Colace, C, Rafehi, H, et al. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of Neurology 92(1) : 122 -137 2022
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  • Morison, LD, Braden, RO, Amor, DJ, Brignell, A, van Bon, BWM, Morgan, AT. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments. European Journal of Human Genetics 30(7) : 800 -811 2022
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  • Wilkins‐Haug, L, Amor, DJ, Savulescu, J. ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes. Prenatal Diagnosis 42(8) : 1015 -1021 2022
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  • Boyle, JA, Black, K, Dorney, E, Amor, DJ, Brown, L, Callander, E, Camilleri, R, Cheney, K, Gordon, A, Hammarberg, K, et al. Setting Preconception Care Priorities in Australia Using a Delphi Technique. Seminars in Reproductive Medicine 40(03/04) : 214 -226 2022
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