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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

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Title: Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Authors: van der Spek J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., den Hoed J; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Schijven D; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, United Kingdom; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom., Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL., Beck-Wödl S; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Brunet T; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, Maastricht University, Maastricht, The Netherlands., Campeau PM; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Haack TB; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lovrecic L; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Magg J; Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen, Germany., Maver A; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Miranda V; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Monteil DC; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pais LS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Plaiasu V; INSMC Alessandrescu-Rusescu, Regional Center of Medical Genetics Bucharest, Bucharest, Romania., Raiti L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Richmond C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Genetic Health Queensland, Royal Brisbane and Women's hospital, Herston, Queensland, Australia; School of Medicine, Griffith University, Southport, Queensland, Australia., Rieß A; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Spranger S; Praxis für Humangenetik-Bremen, Bremen, Germany., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Francks C; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Fisher SE; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. Electronic address: Tjitske.Kleefstra@radboudumc.nl.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1283-1296. Date of Electronic Publication: 2022 Mar 26.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
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  Data: <searchLink fieldCode="AU" term="%22van+der+Spek+J%22">van der Spek J</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22den+Hoed+J%22">den Hoed J</searchLink>; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Snijders+Blok+L%22">Snijders Blok L</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schijven+D%22">Schijven D</searchLink>; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nellaker+C%22">Nellaker C</searchLink>; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, United Kingdom; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Venselaar+H%22">Venselaar H</searchLink>; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Astuti+GDN%22">Astuti GDN</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bebin+EM%22">Bebin EM</searchLink>; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL.<br /><searchLink fieldCode="AU" term="%22Beck-Wödl+S%22">Beck-Wödl S</searchLink>; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brown+NJ%22">Brown NJ</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; 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University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Gilissen+C%22">Gilissen C</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hüning+I%22">Hüning I</searchLink>; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22Husain+RA%22">Husain RA</searchLink>; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Kamien+B%22">Kamien B</searchLink>; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Lim+SC%22">Lim SC</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lovrecic+L%22">Lovrecic L</searchLink>; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Magg+J%22">Magg J</searchLink>; Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Maver+A%22">Maver A</searchLink>; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Miranda+V%22">Miranda V</searchLink>; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Monteil+DC%22">Monteil DC</searchLink>; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA.<br /><searchLink fieldCode="AU" term="%22Ockeloen+CW%22">Ockeloen CW</searchLink>; 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Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Fisher+SE%22">Fisher SE</searchLink>; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. 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            – Type: volume
              Value: 24
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1