Catherine Shain

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi, Quratulain Zulfiqar Ali et autres

us, il, ca, it, au, gb, tr, ag, fr, hk, de, lb, ps, ie, tw, fi, be, nz, lu, at (code pays fourni par la source)

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj et autres

us, gb, de, au, ie, ca, be, it, hk, lu, ch, cy, cz, at (code pays fourni par la source)

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

Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, A. James Barkovich et autres

us, it (code pays fourni par la source)

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

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley et autres

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili et autres

de, lu (code pays fourni par la source)

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

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley et autres

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

Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou et autres

de, us, fi, nl (code pays fourni par la source)

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

Anne Rochtus, Heather E. Olson, Lacey Smith, Louisa G. Keith et autres

us, be, ae (code pays fourni par la source)

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman et autres

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

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau et autres

fr, ca, gb, au, us, no, se, nl (code pays fourni par la source)

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

Melodie R. Winawer, Nicole G. Griffin, Jorge Samanamud, Evan H. Baugh et autres

us (code pays fourni par la source)

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

Steven Tobochnik, Robyn Fahlstrom, Catherine Shain, Melodie R. Winawer

us (code pays fourni par la source)