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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

  • Baker, EK, Arora, S, Amor, DJ, Date, P, Cross, M, O’Brien, J, Simons, C, Rogers, C, Goodall, S, Slee, J, et al. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia. Journal of Autism and Developmental Disorders 53(4) : 1682 -1692 2023
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  • Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, et al. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry 28(4) : 1647 -1663 2023
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  • Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, et al. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry 28(4) : 1664 -1666 2023
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  • Bowman-Smart, H, Gyngell, C, Mand, C, Amor, DJ, Delatycki, MB, Savulescu, J. Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making. The American Journal of Bioethics 23(3) : 3 -20 2023
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  • Vos, N, Reilly, J, Elting, MW, Campeau, PM, Coman, D, Stark, Z, Tan, TY, Amor, DJ, Kaur, S, StJohn, M, et al. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics 15(6) : 351 -367 2023
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