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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

  • 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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