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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, 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
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  • 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
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  • 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
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  • 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
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