The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
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| Title: | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. |
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| Authors: | Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada., Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark., Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark., Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Everman DB; Greenwood Genetic Center, Greenwood, SC, USA., Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA., Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA., Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain., Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France., Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy., Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Platt D; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Royer E; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA., Leeuwen L; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands., Sinnema M; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stegmann APA; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Stumpel CTRM; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Tiller GE; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA., Bosch DGM; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands., Potgieter ST; Laurentius Hospital, Roermond, the Netherlands., Joss S; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK., Holden S; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Prapa M; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Puura K; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland., Waltes R; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany., Satterstrom FK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., De Rubeis S; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Buxbaum J; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Branko A; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan., Kushima I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan., Howe J; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada., Arado A; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Baldo C; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bénédicte D; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany., Krieg P; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany., Spranger S; Practice of Human Genetics, Bremen, Germany., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Iascone M; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Roscioli T; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia., Buckley MF; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia., Dagli AI; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA., Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Hicks A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK., Aliu E; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Naik S; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA., Sidlow R; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA., Coursimault J; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Nicolas G; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Küpper H; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany., Petit F; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France., Ibrahim V; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Top D; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Di Cara F; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Brunner HG; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands., Vissers LELM; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands., Kramer JM; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca., Kleefstra T; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl. |
| Corporate Authors: | Genomics England Research Consortium; Genomics England, London, UK. |
| Source: | American journal of human genetics [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. Date of Electronic Publication: 2023 May 16. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37196654 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Jakub+TE%22">Jakub TE</searchLink>; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Keung+C%22">Keung C</searchLink>; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Jackson+A%22">Jackson A</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Jaarsveld+RH%22">van Jaarsveld RH</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hopman+SMJ%22">Hopman SMJ</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Binsbergen+E%22">van Binsbergen E</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Valenzuela+I%22">Valenzuela I</searchLink>; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bierhals+T%22">Bierhals T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kortüm+F%22">Kortüm F</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Hertz+JM%22">Hertz JM</searchLink>; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Andersen+CB%22">Andersen CB</searchLink>; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Kibæk+M%22">Kibæk M</searchLink>; Department of Pediatrics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Prijoles+EJ%22">Prijoles EJ</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Everman+DB%22">Everman DB</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+WG%22">Patterson WG</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Meng+L%22">Meng L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Gijavanekar+C%22">Gijavanekar C</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22De+Dios+K%22">De Dios K</searchLink>; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.<br /><searchLink fieldCode="AU" term="%22Lakhani+S%22">Lakhani S</searchLink>; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Levy+T%22">Levy T</searchLink>; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Wieczorek+D%22">Wieczorek D</searchLink>; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Benke+PJ%22">Benke PJ</searchLink>; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.<br /><searchLink fieldCode="AU" term="%22Lopez+Garcia+MS%22">Lopez Garcia MS</searchLink>; Hospital Universitario Donostia, San Sebastián, Spain.<br /><searchLink fieldCode="AU" term="%22Perrier+R%22">Perrier R</searchLink>; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Sousa+SB%22">Sousa SB</searchLink>; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Almeida+PM%22">Almeida PM</searchLink>; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Simões+MJ%22">Simões MJ</searchLink>; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.<br /><searchLink fieldCode="AU" term="%22Schmanski+AA%22">Schmanski AA</searchLink>; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Abdul-Rahman+O%22">Abdul-Rahman O</searchLink>; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.<br /><searchLink fieldCode="AU" term="%22Thauvin+C%22">Thauvin C</searchLink>; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Smits+JJ%22">Smits JJ</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Peluso+F%22">Peluso F</searchLink>; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Davis-Keppen+L%22">Davis-Keppen L</searchLink>; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.<br /><searchLink fieldCode="AU" term="%22Platt+D%22">Platt D</searchLink>; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.<br /><searchLink fieldCode="AU" term="%22Royer+E%22">Royer E</searchLink>; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.<br /><searchLink fieldCode="AU" term="%22Leeuwen+L%22">Leeuwen L</searchLink>; University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Sinnema+M%22">Sinnema M</searchLink>; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Stegmann+APA%22">Stegmann APA</searchLink>; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Stumpel+CTRM%22">Stumpel CTRM</searchLink>; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands; Department of Clinical Genetics and GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tiller+GE%22">Tiller GE</searchLink>; Kaiser Permanente, Department of Genetics, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bosch+DGM%22">Bosch DGM</searchLink>; Erasmus Medical Centre, Genetics Department, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Potgieter+ST%22">Potgieter ST</searchLink>; Laurentius Hospital, Roermond, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Joss+S%22">Joss S</searchLink>; West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Splitt+M%22">Splitt M</searchLink>; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.<br /><searchLink fieldCode="AU" term="%22Holden+S%22">Holden S</searchLink>; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Prapa+M%22">Prapa M</searchLink>; Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Foulds+N%22">Foulds N</searchLink>; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.<br /><searchLink fieldCode="AU" term="%22Douzgou+S%22">Douzgou S</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Puura+K%22">Puura K</searchLink>; Department of Child Psychiatry, Tampere University and Tampere University Hospital, Tampere, Finland.<br /><searchLink fieldCode="AU" term="%22Waltes+R%22">Waltes R</searchLink>; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Chiocchetti+AG%22">Chiocchetti AG</searchLink>; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Freitag+CM%22">Freitag CM</searchLink>; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe-Universität, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Satterstrom+FK%22">Satterstrom FK</searchLink>; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22De+Rubeis+S%22">De Rubeis S</searchLink>; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Buxbaum+J%22">Buxbaum J</searchLink>; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Gelb+BD%22">Gelb BD</searchLink>; Mindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Branko+A%22">Branko A</searchLink>; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Kushima+I%22">Kushima I</searchLink>; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan; Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Howe+J%22">Howe J</searchLink>; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Arado+A%22">Arado A</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Baldo+C%22">Baldo C</searchLink>; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Patat+O%22">Patat O</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Bénédicte+D%22">Bénédicte D</searchLink>; Service de Génétique Clinique, Centre de référence maladies rares, CHU d'Amiens-site Sud, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Lopergolo+D%22">Lopergolo D</searchLink>; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero Universitaria Senese, Policlinico Le Scotte, Viale Bracci, 2, 53100 Siena, Italy; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Santorelli+FM%22">Santorelli FM</searchLink>; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Dufke+A%22">Dufke A</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bertrand+M%22">Bertrand M</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Falb+RJ%22">Falb RJ</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rieß+A%22">Rieß A</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.<br /><searchLink fieldCode="AU" term="%22Krieg+P%22">Krieg P</searchLink>; Department of Pediatrics, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; Practice of Human Genetics, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Laboratory of Medical Genetics, Ospedale Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Josephi-Taylor+S%22">Josephi-Taylor S</searchLink>; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Roscioli+T%22">Roscioli T</searchLink>; Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2031, Australia.<br /><searchLink fieldCode="AU" term="%22Buckley+MF%22">Buckley MF</searchLink>; New South Wales Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Liebelt+J%22">Liebelt J</searchLink>; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Dagli+AI%22">Dagli AI</searchLink>; Orlando Health Arnold Palmer Hospital for Children, Division of Genetics, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Aten+E%22">Aten E</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Hicks+A%22">Hicks A</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Suri+M%22">Suri M</searchLink>; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.<br /><searchLink fieldCode="AU" term="%22Aliu+E%22">Aliu E</searchLink>; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.<br /><searchLink fieldCode="AU" term="%22Naik+S%22">Naik S</searchLink>; Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey, PA, USA.<br /><searchLink fieldCode="AU" term="%22Sidlow+R%22">Sidlow R</searchLink>; Valley Children's Hospital, Valley Children's Place, Madera, CA 93636, USA.<br /><searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.<br /><searchLink fieldCode="AU" term="%22Küpper+H%22">Küpper H</searchLink>; Neuropediatric Department, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; Centre Hospitalier Universitaire de Lille, Clinique de Génétique Guy Fontaine, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ibrahim+V%22">Ibrahim V</searchLink>; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Top+D%22">Top D</searchLink>; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada; Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Di+Cara+F%22">Di Cara F</searchLink>; Department of Microbiology and Immunology, Faculty of Medicine, Dalhousie University, Halifax, NS, Canada.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Stolerman+E%22">Stolerman E</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vissers+LELM%22">Vissers LELM</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kramer+JM%22">Kramer JM</searchLink>; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada. Electronic address: jkramer@dal.ca.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Genomics+England+Research+Consortium%22">Genomics England Research Consortium</searchLink>; Genomics England, London, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2023 Jun 01; Vol. 110 (6), pp. 963-978. <i>Date of Electronic Publication: </i>2023 May 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
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