Simran Kaur
Simran Kaur
Details
Role
Team Leader / Senior Research Officer
Research area
Genomic Medicine
Group
Brain and Mitochondrial
Top Publications
- Boyle, L, Rao, L, Kaur, S, Fan, X, Mebane, C, Hamm, L, Thornton, A, Ahrendsen, JT, Anderson, MP, Christodoulou, J, et al. Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder. 2024 view publication
- Kaur, S, Christodoulou, J. MECP2 Disorders. 2024 view publication
- Vos, N, Reilly, J, Elting, MW, Campeau, PM, Coman, D, Stark, Z, Tan, TY, Amor, DJ, Kaur, S, StJohn, M, et al. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics 15(6) : 351 -367 2023 view publication
- Levy, MA, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat‐Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, et al. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation 43(11) : 1609 -1628 2022 view publication
- Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, et al. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances 3(1) : 100075 2022 view publication
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