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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