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Paper Details

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
15
2021
Developmental delay, SETD1B, SETD1B dysfunction, SETD1B sequence variants, SETD1B variants, SETD1B-related syndrome, autism, epilepsy, epileptic, global developmental delay, intellectual disability, language delay, patient, patients, seizures, syndromic neurodevelopmental disorder
Author NameAffiliation
Henry HouldenQueen Square Institute of Neurology, University College London
Irma J??rvel??University of Helsinki
Suzanne M LealCenter for Statistical Genetics, Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center
Sanjay M SisodiyaUCL Queen Square Institute of Neurology
Sanjay M Sisodiya
James R LupskiBaylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine
James R LupskiBaylor College of Medicine, Texas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine, Texas Children's Hospital
Shehla MohammedClinical Genetics, Guy's and St Thomas NHS Foundation Trust
Ghayda M MirzaaUniversity of Washington School of Medicine
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute
Ghayda M MirzaaBrotman Baty Institute for Precision Medicine
Andrew E TimmsCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute
Daniel C KoboldtNationwide Children's Hospital
Matthew PastoreNationwide Children's Hospital
Bert B A de VriesRadboud university medical center
Christian GilissenRadboud university medical center
Marielle E van GijnUniversity Medical Center Groningen
Sally Ann LynchChildren's Health Ireland at Temple St. Children's Hospital and Our Lady's Children's Hospital
Siddharth BankaSt. Mary's Hospital, Manchester University NHS Foundation Trust
Siddharth BankaUniversity of Manchester
Stefan T AroldKing Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC)
Stefan T AroldCNRS, INSERM, Universite de Montpellier
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