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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