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, Arpone, M, Bui, M, Kraan, CM, Ling, L, Francis, D, Hunter, MF, Rogers, C, Field, MJ, Santa María, L, et al.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
American Journal of Medical Genetics Part A
191(2)
:
357 -369
2023
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Kraan, CM, Bui, M, Archibald, A, Davison, S, Cvejic, RC, Metcalfe, S, Amor, DJ, Trollor, JN, Cohen, J, Cornish, K.
Social and physical predictors of mental health impact in adult women who have an FMR1 premutation.
Genetics in Medicine Open
1(1)
:
100829
2023
view publication
St John, M, Amor, DJ, Morgan, AT.
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome.
American Journal of Medical Genetics Part A
188(12)
:
3389 -3400
2022
view publication
Arpone, M, Bretherton, L, Amor, DJ, Hearps, SJC, Rogers, C, Field, MJ, Hunter, MF, Santa Maria, L, Alliende, AM, Slee, J, et al.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Research in Developmental Disabilities
131:
104338
2022
view publication
Catford, SR, Halliday, J, Lewis, S, O'Bryan, MK, Handelsman, DJ, Hart, RJ, McBain, J, Rombauts, L, Amor, DJ, Saffery, R, et al.
The metabolic health of young men conceived using intracytoplasmic sperm injection..
Human Reproduction
37(12)
:
2908 -2920
2022
view publication