Dr Cas Simons
Dr Cas Simons
Top Publications
- DiSanza, BL, Porcari, GS, Sertori Finoti, L, Ramos-Rodriguez, L, Burris, DM, McDonough, JA, Ning, G, Fagan, G, Helman, GT, Weiss, E, et al. Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.. HGG Adv 7(1) : 100525 2026 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 2026 view publication
- Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al. RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency. 2020.05.21.20104265 2026 view publication
- Yan, H, Helman, G, Murthy, SE, Ji, H, Crawford, J, Kubisiak, T, Bent, SJ, Xiao, J, Taft, RJ, Coombs, A, et al. Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy. 682179 2026 view publication
- Morgan, KJ, Doggett, K, Geng, F-S, Whitehead, L, Smith, KA, Hogan, BM, Simons, C, Baillie, GJ, Molania, R, Papenfuss, AT, et al. Elys deficiency constrains Kras-driven tumour burden by amplifying oncogenic stress. 2026 view publication
Page 1 of 30
Career information
Share //
