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
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.
Genetics in Medicine
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 towards consensus?.
Genetics in Medicine
101077
2024
view publication
Turbitt, E, Callinan, E, Shakes, P, McEwen, A, Amor, DJ.
Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions.
Current Developmental Disorders Reports
1 -11
2024
view publication
Turbitt, E, Bourne, M, McEwen, A, Amor, DJ.
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study..
Dev Med Child Neurol
2023
view publication
Morison, LD, van Reyk, O, Forbes, E, Rouxel, F, Faivre, L, Bruinsma, F, Vincent, M, Jacquemont, M-L, Dykzeul, NL, Geneviève, D, et al.
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases..
Eur J Hum Genet
2023
view publication