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
view publication