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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

  • Ganesamoorthy, D, Bruno, D, McGillivray, G, Norris, F, White, S, Adroub, S, Amor, D, Yeung, A, Oertel, R, Pertile, et al. Meeting the challenge of interpreting high‐resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?. BJOG An International Journal of Obstetrics & Gynaecology 120(5) : 594 -606 2013
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  • Turbitt, E, Amor, DJ, Halliday, JL, Metcalfe, SA. Considerations for Reporting Genome Results to Patients. Journal of Paediatrics and Child Health 49(1) : 82 -82 2013
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  • Allou, L, Lambert, L, Amsallem, D, Bieth, E, Edery, P, Destrée, A, Rivier, F, Amor, D, Thompson, E, Nicholl, J, et al. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. European Journal of Human Genetics 20(12) : 1216 -1223 2012
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  • Brett, GR, Metcalfe, SA, Amor, DJ, Halliday, JL. An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. European Journal of Human Genetics 20(8) : 825 -830 2012
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  • Loesch, DZ, Sherwell, S, Kinsella, G, Tassone, F, Taylor, A, Amor, D, Sung, S, Evans, A. Fragile X‐associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clinical Genetics 82(1) : 88 -92 2012
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