photo of Penny Snell

Penny Snell

Penny Snell

Details

Role Research Coordinator
Research area Bruce Lefroy Centre

Contact

Associate Genetic Counsellor.
Associate Genetic Counsellor.

Top Publications

  • Smolen, C, Jensen, M, Dyer, L, Pizzo, L, Tyryshkina, A, Banerjee, D, Rohan, L, Huber, E, Khattabi, LE, Prontera, P, et al. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants. 4(06-07) : 2023.05.18.23290169 2024
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  • 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. The Lancet Neurology 22(9) : 812 -825 2023
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  • Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. American Journal of Human Genetics 110(6) : 1018 2023
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  • Rafehi, H, Read, J, Szmulewicz, DJ, Davies, KC, Snell, P, Fearnley, LG, Scott, L, Thomsen, M, Gillies, G, Pope, K, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. American Journal of Human Genetics 110(1) : 105 -119 2023
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  • Dzau, W, Cheng, S, Snell, P, Fahey, M, Scheffer, IE, Harvey, AS, Howell, KB. Response to sequential treatment with prednisolone and vigabatrin in infantile spasms. Journal of Paediatrics and Child Health 58(12) : 2197 -2202 2022
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