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
Smith, KR, Bromhead, CJ, Hildebrand, MS, Shearer, AE, Lockhart, PJ, Najmabadi, H, Leventer, RJ, McGillivray, G, Amor, DJ, Smith, RJ, et al.
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.
Genome Biology
12(9)
:
r85
2011
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Rieubland, C, Holmes, AD, Caramins, M, Roscioli, T, Amor, DJ.
Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?.
American Journal of Medical Genetics Part A
155(1)
:
233 -234
2011
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Jaques, AM, Amor, DJ, Baker, HWG, Healy, DL, Ukoumunne, OC, Breheny, S, Garrett, C, Halliday, JL.
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies.
Fertility and Sterility
94(7)
:
2674 -2679
2010
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McClaren, BJ, Metcalfe, SA, Aitken, M, Massie, RJ, Ukoumunne, OC, Amor, DJ.
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.
European Journal of Human Genetics
18(10)
:
1084 -1089
2010
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Johnston, JJ, Sapp, JC, Turner, JT, Amor, D, Aftimos, S, Aleck, KA, Bocian, M, Bodurtha, JN, Cox, GF, Curry, CJ, et al.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Human Mutation
31(10)
:
1142 -1154
2010
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