Simran Kaur

Details

Role Team Leader / Senior Research Officer

Research area Genomic Medicine

Group Brain and Mitochondrial

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
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Kaur, S, Christodoulou, J. MECP2 Disorders. 2024
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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
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Levy, MA, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, et al. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.. Hum Mutat 43(11) : 1609 -1628 2022
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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.. HGG Adv 3(1) : 100075 2022
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