Penny Snell

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 164 citations · Full text

Life Sciences, Neurology, Neuroscience +10

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Corrine Smolen, Matthew Jensen, Lisa Dyer et al. · The American Journal of Human Genetics · 2023 · 40 citations · Full text

Life Sciences, Biology, Genetics +13

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms

Winston Dzau, Sally Cheng, Penny Snell et al. · Journal of Paediatrics and Child Health · 2022 · 10 citations · Full text

Pharmacy, Pediatrics, Pharmacotherapy +12

<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · medRxiv · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17