Litcius/Paper detail

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Katherine A. Benson, Máire White, Nicholas M. Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel J. Costello, Colin P. Doherty, Brendan Dunleavey, Hany El-Naggar, Nisha Gangadharan, Sinéad B. Heavin, Hugh Kearney, Nicholas Lench, John Lynch, Mark McCormack, Mary O’ Regan, Karl Podesta, Kevin Power, Anthony S. Rogers, Charles A. Steward, Brian Sweeney, David Webb, M Fitzsimons, Marie T. Greally, Norman Delanty, Gianpiero L. Cavalleri

2020European Journal of Human Genetics51 citationsDOIOpen Access PDF

Topics & Concepts

EpilepsyIntellectual disabilityMedical geneticsExome sequencingGenetic testingCohortMedicinePediatricsGenomicsExomeCopy-number variationPsychiatryGeneticsBiologyMutationPathologyInternal medicineGenomeGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders