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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

  • Yeung, A, Bruno, D, Scheffer, IE, Carranza, D, Burgess, T, Slater, HR, Amor, DJ. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. European Journal of Medical Genetics 52(6) : 440 -442 2009
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  • Susman, MR, Amor, DJ, Halliday, JL. Non‐invasive prenatal diagnosis — toward a new horizon. The Medical Journal of Australia 191(7) : 414 -414 2009
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  • Hunter, M, Bruno, D, Amor, DJ. Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. American Journal of Medical Genetics Part A 149A(8) : 1763 -1767 2009
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  • Amor, DJ, Xu, JX, Halliday, JL, Francis, I, Healy, DL, Breheny, S, Baker, HWG, Jaques, AM. Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome. Human Reproduction 24(6) : 1330 -1338 2009
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  • Yeung, A, Amor, D, Savarirayan, R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome. American Journal of Medical Genetics Part A 149A(4) : 767 -769 2009
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