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
- Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A, Lord, J, Ganesh, VS, Ma, J, Martin-Geary, AC, et al. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.. medRxiv 2024 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).. Hum Mol Genet 33(2) : 103 -109 2024 view publication
- 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 2024 view publication
- Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al. RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency. 2020.05.21.20104265 2024 view publication
- Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M. Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data. 851675 2024 view publication
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