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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

  • Lauretta, ML, Jarmolowicz, A, Amor, DJ, Best, S, Morgan, AT. An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech.. Journal of Speech Language and Hearing Research 1 -15 2023
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  • St John, M, Tripathi, T, Morgan, AT, Amor, DJ. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders. Neuroscience & Biobehavioral Reviews 152: 105293 2023
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  • Amarasekera, SSC, Hock, DH, Lake, NJ, Calvo, SE, Grønborg, SW, Krzesinski, EI, Amor, DJ, Fahey, MC, Simons, C, Wibrand, F, et al. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease. Human Molecular Genetics 32(15) : 2441 -2454 2023
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  • Morison, LD, van Reyk, O, Forbes, E, Rouxel, F, Faivre, L, Bruinsma, F, Vincent, M, Jacquemont, M-L, Dykzeul, NL, Geneviève, D, et al. CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.. Eur J Hum Genet 31(7) : 793 -804 2023
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  • Godler, DE, Inaba, Y, Bui, MQ, Francis, D, Skinner, C, Schwartz, CE, Amor, DJ. Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.. Int J Mol Sci 24(13) : 2023
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