Gretchen Parsons

Genotype–phenotype correlations in X-linked myotubular myopathy

Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello et al. · Neuromuscular Disorders · 2002 · 154 citations

Life Sciences, Genetics, Molecular Genetics +13

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti, Boris Keren, Elizabeth E. Palmer et al. · Genetics in Medicine · 2019 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Severe neurocognitive and growth disorders due to variation in <i>THOC2</i>, an essential component of nuclear mRNA export machinery

Raman Kumar, Alison Gardner, Claire C. Homan et al. · Human Mutation · 2018 · 24 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser et al. · Genetics in Medicine · 2020 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14