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
Brignell, A, Gu, C, Holm, A, Carrigg, B, Sheppard, DA, Amor, DJ, Morgan, AT.
Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
European Journal of Human Genetics
29(4)
:
719 -719
2021
view publication
Lewis, S, Amor, DJ, Glynn, A, Wilton, L, Halliday, J.
Child health after preimplantation genetic testing.
Reproductive BioMedicine Online
42(3)
:
609 -619
2021
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Radio, FC, Pang, K, Ciolfi, A, Levy, MA, Hernández-García, A, Pedace, L, Pantaleoni, F, Liu, Z, de Boer, E, Jackson, A, et al.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
American Journal of Human Genetics
108(3)
:
502 -516
2021
view publication
Johnson, N, Maguire, S, Morra, A, Kapoor, PM, Tomczyk, K, Jones, ME, Schoemaker, MJ, Gilham, C, Bolla, MK, Wang, Q, et al.
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
British Journal of Cancer
124(4)
:
842 -854
2021
view publication