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Paper Details

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
4
2022
COMPASS family proteins, KMT2A/C, RbBP5, WDR5, WDR5 protein, amino acid, autism spectrum disorder, epilepsy, genes, hearing loss, heart anomalies, histones, human, human cell lines, intellectual disability, missense variants, neurodevelopmental disorder, neurodevelopmental disorders, speech/language delays
Author NameAffiliation
Eleanor G SeabyBroad Institute of MIT and Harvard
Eleanor G SeabyUniversity Hospital Southampton
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Dong LiPerelman School of Medicine at the University of Pennsylvania
Dong LiThe Children's Hospital of Philadelphia
Elaine H ZackaiThe Children's Hospital of Philadelphia
Elaine H ZackaiPerelman School of Medicine at the University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine at the University of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine at the University of Pennsylvania
Hanns Lochm??llerChildren's Hospital of Eastern Ontario Research Institute, the Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza StarkUniversity of Melbourne
Han G BrunnerRadboud University Medical Center
Han G BrunnerDonders Institute for Brain, Radboud University Medical Center
Han G Brunner
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