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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske.
  • Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Verseput J; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • Rots D; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Venselaar H; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Innes AM; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Stumpel C; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Õunap K; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500HB, the Netherlands.
  • Reinson K; The Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Seaby EG; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW-School for Oncology and Reproduction), Maastricht UMC+, Maastricht, the Netherlands.
  • McKee S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • Burton B; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Kim K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
  • van Hagen JM; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Waisfisz Q; Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Joset P; Genomic Informatics Group, University Hospital Southampton, Southampton, UK.
  • Steindl K; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK.
  • Rauch A; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Li D; Ann and Robert H. Lurie Children's Hospital and Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  • Zackai EH; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Sheppard SE; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Keena B; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Hakonarson H; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.
  • Roos A; Institute of Medical Genetics, University of Zuirch, Schlieren-Zurich, Switzerland.
  • Kohlschmidt N; University Children's Hospital Zurich, Zurich, Switzerland.
  • Cereda A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Iascone M; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Rebessi E; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Kernohan KD; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Campeau PM; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Millan F; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Taylor JA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Lochmüller H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Higgs MR; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Goula A; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Bernhard B; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
  • Velasco DJ; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
  • Schmanski AA; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
  • Stark Z; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany.
  • Gallacher L; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Pais L; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Marcogliese PC; Pediatric Neurological Unit and Epilespy Center, Fatebenefratelli Hospital, Milan, Italy.
  • Yamamoto S; Newborn Screening Ontario, Children's Hospital of Eastern Ontario and Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
  • Raun N; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Jakub TE; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada.
  • Kramer JM; GeneDx, Gaithersburg, MD 20877, USA.
  • den Hoed J; Division of Plastic Surgery, Department of Surgery, The Children's Hospital of Philadelpia, Philadelphia, PA, USA.
  • Fisher SE; Children'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.
  • Brunner HG; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
  • Kleefstra T; Lysine Methylation and DNA Damage Laboratory, Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
HGG Adv ; 4(1): 100157, 2023 01 12.
Article en En | MEDLINE | ID: mdl-36408368
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Drosophila / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Trastornos del Desarrollo del Lenguaje Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Drosophila / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Trastornos del Desarrollo del Lenguaje Límite: Animals / Humans Idioma: En Año: 2023 Tipo del documento: Article