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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