Annie Godwin

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

Julie Tordo, Claire O’Leary, André Saraiva Leão Marcelo Antunes et al. · Brain · 2018 · 127 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +15

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 111 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

Vardha Ismail, Linda G. Zachariassen, Annie Godwin et al. · The American Journal of Human Genetics · 2022 · 51 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

William L. Macken, Annie Godwin, Gabrielle Wheway et al. · Genome Medicine · 2021 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin et al. · Brain · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14