Catherine Shain

The epilepsy phenome/genome project.

A. Carpenter, V. Mays, Jody Hessling, 2013 .

Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project

R. Fahlstrom, M. Winawer, Catherine Shain, 2017, Neurology.

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

D. Segal, M. S. Salman, T. Loddenkemper, 2017, Annals of neurology.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Marina T. DiStefano, H. Mefford, David T. Miller, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

A. Poduri, Shira Rockowitz, Catherine Shain, 2020, Epilepsia.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Polymicrogyria‐associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project

R. Knowlton, A. Poduri, I. Parulkar, 2013, Epilepsia.

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

C. Schevon, A. Allen, G. Mckhann, 2018, Annals of neurology.

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy

R. Kuzniecky, R. Knowlton, H. Pardoe, 2015, Epilepsy & Behavior.