photo of Dr Sue White

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.
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.

Top Publications

  • Nguyen, JNH, Lachgar-Ruiz, M, Higginbotham, EJ, Coleman, M, Coleman, J, Shao, W, Scotchman, E, Pritchard, AJ, Bell, KM, Chitty, LS, et al. Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.. Neurology 106(6) : e214645 2026
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  • Zhao, T, Allan, K, Taylor, J, Thorburn, DR, White, SM, Tan, TY, Christodoulou, J, Tan, NB, Stroud, DA. Functional Characterization of a Novel GPC3 Missense Variant in Simpson-Golabi-Behmel Syndrome.. Am J Med Genet A 200(3) : 632 -641 2026
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  • De Falco, A, Vincent, M, Vieville, G, Gauthier, M, Dieterich, K, Coutton, C, Loddo, S, Novelli, A, Dallapiccola, B, Digilio, MC, et al. 9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.. Am J Med Genet A 200(3) : 706 -717 2026
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  • Fasham, J, Rankin, J, Schot, R, White, SM, Bell, KM, Wakeling, MN, Mallin, LJ, Shah, A, de Silva, MG, Francis, DI, et al. Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.. Am J Hum Genet 113(1) : 221 -233 2026
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  • Dashnow, H, Bell, KM, Stark, Z, Tan, TY, White, SM, Oshlack, A. Pooled-parent exome sequencing to prioritise de novo variants in genetic disease. 601740 2026
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