-
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
-
Gonzalez, CD, Sanderson, LE, Depace, R, Helman, G, Wu, K, Disanza, B, Pizzino, A, Schmidt, J, Muirhead, K, Bonkowsky, J, et al.
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy.
Molecular Genetics and Metabolism
141(4)
:
108328
2024
view publication
-
Houdayer, C, Phillips, AM, Chabbert, M, Bourreau, J, Maroofian, R, Houlden, H, Richards, K, Saadi, NW, Dad'ová, E, Van Bogaert, P, et al.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders..
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
-
Helman, G, Takanohashi, A, Hagemann, TL, Perng, MD, Walkiewicz, M, Woidill, S, Sase, S, Cross, Z, Du, Y, Zhao, L, et al.
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
842229
2024
view publication