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American Journal of Human Genetics|April 16, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaKathleen M Gorman, Esther Meyer, Detelina Grozeva, et al.Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.Neurology. Genetics|November 11, 2016
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsyRikke S Møller, Sarah Weckhuysen, Mathilde Chipaux, et al.Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.Nature Genetics|May 28, 2013
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, et al.Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.Neurology|December 14, 2018
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.Pageof 38