Sarah McKeown

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

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Peter D. Galer, Shiva Ganesan, David Lewis‐Smith et al. · The American Journal of Human Genetics · 2020 · 45 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Impact of exercise and a complex environment on hippocampal dendritic morphology,<scp><i>B</i></scp><i>dnf</i>gene expression, and<scp>DNA</scp>methylation in male rat pups neonatally exposed to alcohol

Karen E. Boschen, Sarah McKeown, Tania L. Roth et al. · Developmental Neurobiology · 2016 · 40 citations

Life Sciences, Neurobiology, Neuroscience +17

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Shiva Ganesan, Peter D. Galer, Katherine L. Helbig et al. · Genetics in Medicine · 2020 · 39 citations · Full text

Medicine, Genetics, Neurology +16