Elizabeth Butler

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

Amanda Lindy, Mary Beth Stosser, Elizabeth Butler et al. · Epilepsia · 2018 · 309 citations · Full text

Life Sciences, Genetics, Epilepsy +9

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda Lindy, Elizabeth Butler et al. · Genetics in Medicine · 2017 · 178 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Javier A. López-Rivera, Costin Leu, Marie Macnee et al. · Brain · 2022 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A novel variant in <i>GABRB2</i> associated with intellectual disability and epilepsy

Siddharth Srivastava, Julie S. Cohen, Jonathan Pevsner et al. · American Journal of Medical Genetics Part A · 2014 · 67 citations

Life Sciences, Genetics, Neuroscience +17

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

Ingo Helbig, Erin Rooney Riggs, Carrie‐Anne Barry et al. · Human Mutation · 2018 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15