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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

  • Peris, M, Reid, SM, Dobie, S, Bonacquisto, L, Shepherd, DA, Amor, DJ. First‐trimester maternal serum biomarkers and the risk of cerebral palsy. Developmental Medicine & Child Neurology 63(2) : 183 -189 2021
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  • Downie, L, Halliday, J, Burt, R, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Sung, V, Wake, M, et al. Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. European Journal of Human Genetics 29(2) : 363 -363 2021
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  • Kirk, EP, Ong, R, Boggs, K, Hardy, T, Righetti, S, Kamien, B, Roscioli, T, Amor, DJ, Bakshi, M, Chung, CWT, et al. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”). European Journal of Human Genetics 29(1) : 79 -87 2021
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  • Wallis, M, Pope‐Couston, R, Mansour, J, Amor, DJ, Tang, P, Stock‐Myer, S. Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain. American Journal of Medical Genetics Part A 185(1) : 150 -156 2021
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  • Amor, DJ. Fragile X Syndrome and Premutation Disorders: New Developments and Treatments Edited by Randi J Hagerman and Paul J Hagerman. London: Mac Keith Press, 2020. £75.00 (Hardback), pp 176. ISBN: 9781911612377. Developmental Medicine & Child Neurology 63(1) : 119 -119 2021
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