Penny Snell
Penny Snell
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Associate Genetic Counsellor
Associate Genetic Counsellor
Top Publications
- 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). 2024 view publication
- Kooshavar, D, Amor, DJ, Boggs, K, Baker, N, Barnett, C, de Silva, MG, Edwards, S, Fahey, MC, Marum, JE, Snell, P, et al. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.. Brain Commun 6(2) : fcae056 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
- Smolen, C, Jensen, M, Dyer, L, Pizzo, L, Tyryshkina, A, Banerjee, D, Rohan, L, Huber, E, El Khattabi, L, Prontera, P, et al. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.. Am J Hum Genet 110(12) : 2015 -2028 2023 view publication
- D'Gama, AM, Mulhern, S, Sheidley, BR, Boodhoo, F, Buts, S, Chandler, NJ, Cobb, J, Curtis, M, Higginbotham, EJ, Holland, J, et al. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.. Lancet Neurol 22(9) : 812 -825 2023 view publication
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