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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

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Title: TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Authors: van Woerden GM; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Bos M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., de Konink C; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Distel B; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Avagliano Trezza R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Shur NE; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA., Barañano K; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Erwin AL; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Gripp KW; Division of Medical Genetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA., Rehman F; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Brulleman S; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., McCormack R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., de Geus G; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA., Sorlin A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Gabriel MK; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Rossi M; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Fitzpatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Johnson D; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK., Brooks A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Fleischer J; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA., Groepper D; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Goodwin A; VCU Medical Center, Clinical Genetics Services, Richmond, Virginia, USA., Humberson J; Division of Pediatric Genetics, Department of Pediatrics, University of Virginia Medical Center, Charlottesville, Virginia, USA., Noyes A; GeneDx, Gaithersburg, Maryland, USA., Langley KG; GeneDx, Gaithersburg, Maryland, USA., Telegrafi A; GeneDx, Gaithersburg, Maryland, USA., Blevins A; GeneDx, Gaithersburg, Maryland, USA., Hoffman J; GeneDx, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Juusola J; GeneDx, Gaithersburg, Maryland, USA., Monaghan KG; GeneDx, Gaithersburg, Maryland, USA., Punj S; GeneDx, Gaithersburg, Maryland, USA., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Elgersma Y; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Source: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 445-459. Date of Electronic Publication: 2021 Mar 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1098-1004
DOI:10.1002/humu.24176