Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Ghayda Mirzaa(University of Washington), Emily O’Heir(MACOM (United States)), Stephan C. Collins(Inserm), Sara Timpano, Nora Oyama(Norcliffe Foundation), Kyra E. Stuurman(Amsterdam UMC Location Vrije Universiteit Amsterdam), Noor Smal(VIB-UAntwerp Center for Molecular Neurology), Binnaz Yalcin(Université Claude Bernard Lyon 1), Alberto Fernández‐Jaén(Hospital Universitario Quirónsalud Madrid), Kristen Park(University of Colorado Anschutz Medical Campus), Michael C. Kruer(Barrow Neurological Institute), Solène Conrad(Centre National de la Recherche Scientifique), Raissa Relator(London Health Sciences Centre), A. Micheil Innes(University of Calgary), William B. Dobyns(Center for Infectious Disease Research), Sirisak Chanprasert(University of Washington Medical Center), Bertrand Isidor(Centre National de la Recherche Scientifique), Emily Pao(Norcliffe Foundation), Mathieu Lévesque(University of Ottawa), Renske Oegema(Utrecht University), Alfredo Brusco(Azienda Ospedaliera Citta' della Salute e della Scienza di Torino), Elisa Giorgio(University of Turin), Malin Kvarnung(Karolinska University Hospital), María Palomares‐Bralo(Hospital Universitario La Paz), Sébastien Moutton(Maison des Sciences sociales et des Humanités de Dijon), Sophie Nambot(Inserm), María J. Guillen Sacoto, Daniel Martı́n Fernández-Mayoralas(Hospital Universitario Quirónsalud Madrid), Vincenzo Antona(University of Palermo), Fernando Santos‐Simarro(Hospital Universitario La Paz), Wallid Deb(Centre National de la Recherche Scientifique), Elise Brischoux‐Boucher(Centre Hospitalier Universitaire de Besançon), Sarah A Paolucci(University of Washington), Rebecca C. Yeh(Boston Children's Hospital), Antigone Papavasiliou(Iaso Children’s Hospital), Katalin Štěrbová(Northwestern University), Katherine Kim(Johns Hopkins University), Kristin G. Monaghan, Daniel C. Koboldt(Nationwide Children's Hospital), Tawfeg Ben‐Omran(Qatar Airways (Qatar)), Alban Ziegler(Université d'Angers), Benjamin Cogné(Centre National de la Recherche Scientifique), Somayeh Bakhtiari(Barrow Neurological Institute), Barbara K. Burton(Women & Children's Hospital of Buffalo), Parul Jayakar(Miami Children's Hospital), K. Miller(University of Washington), Keqin Yan(Ottawa Hospital), Sarah Weckhuysen(University of Antwerp), P.S. Jayasinghe(University of Ottawa), Juliette Piard(Centre Hospitalier Universitaire de Besançon)
Cited by 4
Related Papers
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
|Genetics in Medicine|2014|718
Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies
|The Lancet Neurology|2014|615
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
|Nature Genetics|2022|613
Diagnostic criteria for Walker‐Warburg syndrome
|American Journal of Medical Genetics|1989|448