-
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