Penny Snell
Penny Snell
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Research Genetic Counsellor
Research Genetic Counsellor
Top Publications
- Finol-Urdaneta, RK, Tan, C-Y, Maksemous, N, Ma, JG, Lockhart, P, Snell, P, Malhotra, A, Thompson, BA, Garg, G, Goel, H, et al. Calibrated high-throughput electrophysiology enables clinical interpretation of CACNA1G missense variants. 2026 view publication
- Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. A novel intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14). 2026 view publication
- Rafehi, H, Fearnley, LG, Read, J, Snell, P, Davies, KC, Scott, L, Gillies, G, Thompson, GC, Field, TA, Eldo, A, et al. Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia. 2026 view publication
- Jensen, M, Smolen, C, Tyryshkina, A, Pizzo, L, Sun, J, Noss, S, Banerjee, D, Oetjens, M, Shimelis, H, Taylor, CM, et al. Genetic modifiers and ascertainment drive variable expressivity of complex disorders.. Cell 188(25) : 7065 -7082.e17 2025 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. HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.. Ann Neurol 98(3) : 573 -589 2025 view publication
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