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
Tatton-Brown, K, Hanks, S, Ruark, E, Zachariou, A, Duarte, SDV, Ramsay, E, Snape, K, Murray, A, Perdeaux, ER, Seal, S, et al.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Oncotarget
2(12)
:
1127 -1133
2011
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Bruno, DL, Stark, Z, Amor, DJ, Burgess, T, Butler, K, Corrie, S, Francis, D, Ganesamoorthy, D, Hills, L, James, PA, et al.
Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high‐resolution SNP microarrays.
Human Mutation
32(12)
:
1500 -1506
2011
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Bruno, DL, White, SM, Ganesamoorthy, D, Burgess, T, Butler, K, Corrie, S, Francis, D, Hills, L, Prabhakara, K, Ngo, C, et al.
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
Journal of Medical Genetics
48(12)
:
831
2011
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Lamandé, SR, Yuan, Y, Gresshoff, IL, Rowley, L, Belluoccio, D, Kaluarachchi, K, Little, CB, Botzenhart, E, Zerres, K, Amor, DJ, et al.
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
Nature Genetics
43(11)
:
1142 -1146
2011
view publication
Godler, DE, Slater, HR, Bui, QM, Ono, M, Gehling, F, Francis, D, Amor, DJ, Hopper, JL, Hagerman, R, Loesch, DZ.
FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles.
Journal of Molecular Diagnostics
13(5)
:
528 -536
2011
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