Prof David Amor
Prof David Amor
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 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.
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
- Young, RE, Qiao, L, Hernan, R, Sweetser, DA, Waxler, JL, Scott, DA, Scott, TM, Lalani, SR, Azamian, MS, Rosenfeld, JA, et al. LONP1 Variants Are Associated With Clinically Diverse Phenotypes.. Clin Genet 109(3) : 437 -457 2026 view publication
- Bylstra, Y, Lim, WK, Teo, JX, Menezes, M, Hodgson, J, Yap, F, Chambers, JC, Yeo, KK, Tan, P, Amor, DJ, et al. Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.. Eur J Hum Genet 34(3) : 368 -378 2026 view publication
- Kantor, I, Wright, JL, Amor, DJ, Lockhart, PJ. Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.. Stem Cell Res 91: 103922 2026 view publication
- Butler, G, Amor, DJ, Quinlan, C. From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing.. Eur J Hum Genet 34(2) : 293 -295 2026 view publication
- Van Niel, H, Lauretta, M, Baker, E, O'Donnell, L, Boulton, C, Brenchley, C, Coman, D, Michellis, E, Goel, H, Thompson, G, et al. Childhood motor speech disorders: who to prioritise for genetic testing.. Eur J Hum Genet 2026 view publication
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