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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

  • Chopra, M, Amor, DJ, Sutton, L, Algar, E, Mowat, D. Russell–Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. Reproductive BioMedicine Online 20(6) : 843 -847 2010
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  • Bruno, DL, Anderlid, B-M, Lindstrand, A, van Ravenswaaij-Arts, C, Ganesamoorthy, D, Lundin, J, Martin, CL, Douglas, J, Nowak, C, Adam, MP, et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Journal of Medical Genetics 47(5) : 299 2010
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  • Susman, MR, Amor, DJ, Muggli, E, Jaques, AM, Halliday, J. Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome. Genetics in Medicine 12(5) : 298 -303 2010
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  • Halliday, JL, Ukoumunne, OC, Baker, HWG, Breheny, S, Jaques, AM, Garrett, C, Healy, D, Amor, D. Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies. Human Reproduction 25(1) : 59 -65 2010
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  • Tan, TY, Amor, DJ, Riley, M, Halliday, J, Kilpatrick, N, Simms, K, White, SM. Registry- and Clinic-Based Analyses of Birth Defects and Syndromes Associated with Cleft Lip/Palate in Victoria, Australia. The Cleft Palate-Craniofacial Journal 46(6) : 583 -587 2009
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