ArticleHGG advances2023
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
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Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10citing papers in PubMed
1.7field-weighted citation impact, top 15% of its field
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Who cites it
10 citing papers in PubMed, 9 citations in OpenAlex.
- Neuron-specific WDR5 epigenetically upregulates ARID5B to impair GABAergic synaptic transmission and promotes epileptogenesis.Theranostics · 2026Article
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
- NovelNeurology. Genetics · 2025Article
- Genomic Investigations of Spoken and Written Language Abilities: A Guide to Advances in Approaches, Technologies, and Discovery.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.American journal of human genetics · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Neurodevelopmental functions of CHD8: new insights and questions.Biochemical Society transactions · 2024Review
- Genome Sequencing of Idiopathic Speech Delay.Human mutation · 2024Article
- The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.American journal of human genetics · 2023Article
- Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy.International journal of molecular sciences · 2023Review
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Authors and funding
49 authors at 17 institutions in 9 countries.
Lot Snijders BlokHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Jolijn VerseputHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Dmitrijs RotsHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Hanka VenselaarCentre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands.
A Micheil InnesThe Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Connie StumpelDepartment of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands.
Katrin ÕunapDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Karit ReinsonDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
Eleanor G SeabyTranslational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Shane McKeeNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK.
Barbara BurtonAnn and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Katherine KimAnn and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Johanna M van HagenDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Quinten WaisfiszDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Pascal JosetMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Katharina SteindlInstitute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elaine H ZackaiDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Sarah E SheppardCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Beth KeenaDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Andreas RoosDepartment of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Nicolai KohlschmidtInstitute of Clinical Genetics and Tumor Genetics, Bonn, Germany.
Anna CeredaDepartment of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Maria IasconeLaboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Erika RebessiPediatric Neurological Unit and Epilespy Center, Fatebenefratelli Hospital, Milan, Italy.
Kristin D KernohanNewborn Screening Ontario, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Philippe M CampeauCHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
Francisca MillanGeneDx, Gaithersburg, MD 20877, USA.
Jesse A TaylorDivision of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelpia, Philadelphia, PA, USA.
Hanns LochmüllerChildren's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, the Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
Martin R HiggsLysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Amalia GoulaLysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Birgitta BernhardNorth-West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Munroe-Meyer, Harrow, UK.
Danita J VelascoInstitute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Andrew A SchmanskiInstitute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Lyndon GallacherVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Lynn PaisBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Paul C MarcoglieseDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Nicholas RaunDepartment of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Taryn E JakubInternational Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Jamie M KramerDepartment of Biochemistry and Molecular Biology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.
Joery den HoedLanguage & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Simon E FisherLanguage & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
Han G BrunnerHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Tjitske KleefstraHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
University of Zurich · CHRadboud University Nijmegen · NLChildren's Hospital of Philadelphia · USAmsterdam University Medical Centers · NLBaylor College of Medicine · USBroad Institute · USDalhousie University · CANebraska Medical Center · USNorthwestern University · USTartu University Hospital · EEThe University of Melbourne · AUMaastricht University Medical Centre · NLOspedale Papa Giovanni XXIII · ITUniversity Children's Hospital Zurich · CHUniversity Hospital of Basel · CHUniversity of Calgary · CAUniversity of Ulster · GB
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MNHGRI NIH HHS UM1 HG008900
Abstract
WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare
Indexed as
Autism Spectrum DisorderDrosophila ProteinsLanguage Development DisordersNeurodevelopmental DisordersAnimalsChromatinCluster AnalysisDrosophila melanogasterHistone-Lysine N-MethyltransferaseHumansIntracellular Signaling Peptides and ProteinsChromatinDrosophila ProteinsHistone-Lysine N-MethyltransferaseIntracellular Signaling Peptides and ProteinsSet1 protein, DrosophilaWDR5 protein, humanCOMPASSde novo variantsintellectual disabilityMendelian disordersmissense variantsmultiple congenital abnormalitiesneurodevelopmental disordersnext generation sequencingWDR5
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