Dr Cas Simons
Dr Cas Simons
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
- 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
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