Dr Sue White
Dr Sue White
Details
Role
Clinical Geneticist
Group
Clinical Services
Prof. Sue White is a clinical geneticist and national leader in clinical genomics implementation. She has a productive research program in translation of genomics into clinical care and gene discovery. Her research led to Medicare funding of genomic sequencing for children with intellectual disability, enabling equitable access to genomics for undiagnosed children nationally.
Sue has co-authored 140 publications (13 first-author, 22 senior-author, and 64 in total in the last five years). Sue has supervised > 20 clinical genetics trainees and research supervision includes 1 Doctorate of Medicine, 1 PhD, 3 Masters of Genetic Counselling and 2 University of Melbourne MD Research Projects. Sue develops content for the Masters of Genetic Counselling and Masters of Genomics and Health and is a sought-after teacher to undergraduate and postgraduate students. Her innovative online credentialling module for paediatricians ordering genomic tests has been shared nationally.
Sue has co-authored 140 publications (13 first-author, 22 senior-author, and 64 in total in the last five years). Sue has supervised > 20 clinical genetics trainees and research supervision includes 1 Doctorate of Medicine, 1 PhD, 3 Masters of Genetic Counselling and 2 University of Melbourne MD Research Projects. Sue develops content for the Masters of Genetic Counselling and Masters of Genomics and Health and is a sought-after teacher to undergraduate and postgraduate students. Her innovative online credentialling module for paediatricians ordering genomic tests has been shared nationally.
Prof. Sue White is a clinical geneticist and national leader in clinical genomics implementation. She has a productive research program in translation of genomics into clinical care and gene discovery. Her research led to Medicare funding of genomic...
Prof. Sue White is a clinical geneticist and national leader in clinical genomics implementation. She has a productive research program in translation of genomics into clinical care and gene discovery. Her research led to Medicare funding of genomic sequencing for children with intellectual disability, enabling equitable access to genomics for undiagnosed children nationally.
Sue has co-authored 140 publications (13 first-author, 22 senior-author, and 64 in total in the last five years). Sue has supervised > 20 clinical genetics trainees and research supervision includes 1 Doctorate of Medicine, 1 PhD, 3 Masters of Genetic Counselling and 2 University of Melbourne MD Research Projects. Sue develops content for the Masters of Genetic Counselling and Masters of Genomics and Health and is a sought-after teacher to undergraduate and postgraduate students. Her innovative online credentialling module for paediatricians ordering genomic tests has been shared nationally.
Sue has co-authored 140 publications (13 first-author, 22 senior-author, and 64 in total in the last five years). Sue has supervised > 20 clinical genetics trainees and research supervision includes 1 Doctorate of Medicine, 1 PhD, 3 Masters of Genetic Counselling and 2 University of Melbourne MD Research Projects. Sue develops content for the Masters of Genetic Counselling and Masters of Genomics and Health and is a sought-after teacher to undergraduate and postgraduate students. Her innovative online credentialling module for paediatricians ordering genomic tests has been shared nationally.
Top Publications
- Harms, FL, Dingemans, AJM, Hempel, M, Pfundt, R, Bierhals, T, Casar, C, Müller, C, Niermeijer, J-MF, Fischer, J, Jahn, A, et al. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. Genetics in Medicine 25(11) : 100964 2023 view publication
- Harms, FL, Dingemans, AJM, Hempel, M, Pfundt, R, Bierhals, T, Casar, C, Müller, C, Niermeijer, J-MF, Fischer, J, Jahn, A, et al. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. Genetics in Medicine 25(10) : 100927 2023 view publication
- Ganapathi, M, Matsuoka, LS, March, M, Li, D, Brokamp, E, Benito-Sanz, S, White, SM, Lachlan, K, Ahimaz, P, Sewda, A, et al. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European Journal of Human Genetics 31(10) : 1117 -1124 2023 view publication
- Deuis, JR, Kumble, S, Keramidas, A, Ragnarsson, L, Simons, C, Pais, L, White, SM, Vetter, I. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). Human Molecular Genetics ddad152 2023 view publication
- D'Gama, AM, Mulhern, S, Sheidley, BR, Boodhoo, F, Buts, S, Chandler, NJ, Cobb, J, Curtis, M, Higginbotham, EJ, Holland, J, et al. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology 22(9) : 812 -825 2023 view publication
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