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
Kraan, CM, Date, P, Rattray, A, Sangeux, M, Bui, QM, Baker, EK, Morison, J, Amor, DJ, Godler, DE.
Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes.
Journal of Intellectual Disability Research
66(8-9)
:
717 -725
2022
view publication
Barbier, M, Bahlo, M, Pennisi, A, Jacoupy, M, Tankard, RM, Ewenczyk, C, Davies, KC, Lino‐Coulon, P, Colace, C, Rafehi, H, et al.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Annals of Neurology
92(1)
:
122 -137
2022
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Morison, LD, Braden, RO, Amor, DJ, Brignell, A, van Bon, BWM, Morgan, AT.
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.
European Journal of Human Genetics
30(7)
:
800 -811
2022
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Wilkins‐Haug, L, Amor, DJ, Savulescu, J.
ISPD 2021 debate ‐ All in vitro fertilization cycles should involve pre‐implantation genetic testing to improve fetal health and pregnancy outcomes.
Prenatal Diagnosis
42(8)
:
1015 -1021
2022
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Boyle, JA, Black, K, Dorney, E, Amor, DJ, Brown, L, Callander, E, Camilleri, R, Cheney, K, Gordon, A, Hammarberg, K, et al.
Setting Preconception Care Priorities in Australia Using a Delphi Technique.
Seminars in Reproductive Medicine
40(03/04)
:
214 -226
2022
view publication