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
- Morison, LD, Kennis, MGP, Rots, D, Bouman, A, Kummeling, J, Palmer, E, Vogel, AP, Liegeois, F, Brignell, A, Srivastava, S, et al. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.. J Med Genet 61(6) : 578 -585 2024 view publication
- Shepherd, DA, Amor, DJ, Moreno-Betancur, M. Statistical analysis of observational studies in disability research.. Dev Med Child Neurol 2024 view publication
- Dias, K-R, Shrestha, R, Schofield, D, Evans, C-A, O'Heir, E, Zhu, Y, Zhang, F, Standen, K, Weisburd, B, Stenton, SL, et al. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.. Genet Med 26(5) : 101076 2024 view publication
- Downie, L, Bouffler, SE, Amor, DJ, Christodoulou, J, Yeung, A, Horton, AE, Macciocca, I, Archibald, AD, Wall, M, Caruana, J, et al. Gene selection for genomic newborn screening: Moving toward consensus?. Genet Med 26(5) : 101077 2024 view publication
- Donoghue, S, Wright, J, Voss, AK, Lockhart, PJ, Amor, DJ. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment.. Mol Genet Metab 142(1) : 108360 2024 view publication
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