Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics, vol. 111, pp. 1605–1625
Authors 90
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Radboud University Nijmegen · Erasmus MC · Radboud University Medical Center · Children's Clinical University Hospital
Affiliation as printed
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia
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Radboud University Nijmegen · Erasmus MC · Radboud University Medical Center · Donders Institute for Brain, Cognition and Behaviour
Affiliation as printed
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands
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
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands
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Affiliation as printed
Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan
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Affiliation as printed
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Nijmegen · Radboud University Medical Center
Affiliation as printed
Department of Medical BioSciences, Radboudumc, Nijmegen, the Netherlands
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Amsterdam UMC Location University of Amsterdam · Amsterdam Reproduction Development
Affiliation as printed
Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
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Affiliation as printed
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada
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Western University · London Health Sciences Centre
Affiliation as printed
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada
Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada
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Affiliation as printed
Institute of Human Genetics, University Hospital Essen, Essen, Germany
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Affiliation as printed
Cordaan, Amsterdam, the Netherlands; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands
Cordaan, Amsterdam, the Netherlands
Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, the Netherlands
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Affiliation as printed
Cordaan, Amsterdam, the Netherlands
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Affiliation as printed
Evean Oostergouw, Zaandam, the Netherlands
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St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
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Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari
Affiliation as printed
Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain
Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain
Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain
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Affiliation as printed
Department of Neurology, Boston Children's Hospital, Boston, MA, USA
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Boston Children's Hospital · Harvard University
Affiliation as printed
Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
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Institute of Pathology and Genetics
Affiliation as printed
Institut de Pathologie et de Génétique Centre de Génétique Humaineavenue G. Lemaître, 256041 Gosselies, Belgium
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Affiliation as printed
Medical and Laboratory Unit, Antonio cardarelli Hospital, via A.Cardarelli 9, 80131 Naples, Italy
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Casa Sollievo della Sofferenza · University of Naples Federico II
Affiliation as printed
Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy
Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy
Laboratory of Regulatory and Functional Genomics, fondazione IRCCS casa sollievo della sofferenza, san giovanni rotondo, Foggia, Italy
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Sheffield Children's NHS Foundation Trust · Sheffield Children's Hospital · University of Sheffield
Affiliation as printed
Division of Clinical Medicine, University of Sheffield, Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
Division of Clinical Medicine, University of Sheffield, Sheffield, UK
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom
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Leiden University Medical Center
Affiliation as printed
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
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St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
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Cambridge University Hospitals NHS Foundation Trust
Affiliation as printed
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
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Centre Hospitalier Universitaire de Rennes
Affiliation as printed
Reference Center for Rare Diseases, Hôpital Sud - CHU Rennes, Rennes, France
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University of Manchester · St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
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
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St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
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St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
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Affiliation as printed
MVZ Humangenetik Ulm, Ulm, Germany
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Affiliation as printed
Maasveld, Koraal, Maastricht, the Netherlands; Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands
Department of Family Medicine, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, the Netherlands
Maasveld, Koraal, Maastricht, the Netherlands
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Maastricht University Medical Centre · Maastricht University
Affiliation as printed
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
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University Hospital Southampton NHS Foundation Trust · University of Southampton
Affiliation as printed
Human Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, UK
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University Hospital Southampton NHS Foundation Trust
Affiliation as printed
Wessex Regional Genetics Services, UHS NHS Foundation Trust, Southampton, United Kingdom
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University Hospitals Bristol and Weston NHS Foundation Trust
Affiliation as printed
Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK
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Scuola Superiore Meridionale · Telethon Institute Of Genetics And Medicine · University of Naples Federico II
Affiliation as printed
Department of Translational Medicine, Federico II University of Naples, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy
Department of Translational Medicine, Federico II University of Naples, Naples, Italy
Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
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Amsterdam UMC Location Vrije Universiteit Amsterdam
Affiliation as printed
Amsterdam UMC Location Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, the Netherlands
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Leiden University Medical Center
Affiliation as printed
Department of Clinical Genetica, Leiden University Medical Center, Leiden, the Netherlands
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University of Helsinki · Helsinki University Hospital · Hospital District of Helsinki and Uusimaa
Affiliation as printed
Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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University of Helsinki · Helsinki University Hospital · Hospital District of Helsinki and Uusimaa
Affiliation as printed
Department of Clinical Genetics, HUSLAB, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Inserm · Université de Montpellier · Centre Hospitalier Universitaire de Montpellier · ERN ITHACA
Affiliation as printed
Université Montpellier, Unité INSERM U1183, Montpellier, France; Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France
Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France
Université Montpellier, Unité INSERM U1183, Montpellier, France
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Centre Hospitalier Universitaire de Montpellier · ERN ITHACA
Affiliation as printed
Centre de reference Anomalies du développement, ERN ITHACA, Service de génétique Clinique, CHU Montpellier, Montpellier, France
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Guy's Hospital · Guy's and St Thomas' NHS Foundation Trust
Affiliation as printed
Clinical Genetics Department 7th Floor Borough WingGuy's Hospital, Guy's & St Thomas' NHS Foundation TrustGreat Maze Pond, London, UK
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St Mary's Hospital · Manchester University NHS Foundation Trust · Health Innovation Manchester
Affiliation as printed
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK
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Affiliation as printed
Prinsenstichting, Purmerend, the Netherlands
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Affiliation as printed
Prinsenstichting, Purmerend, the Netherlands
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Amsterdam UMC Location University of Amsterdam · Amsterdam Reproduction Development
Affiliation as printed
Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands
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Maastricht University Medical Centre · Maastricht University
Affiliation as printed
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
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University of Connecticut · UConn Health
Affiliation as printed
Department of Pediatrics, Division of Neurology, Connecticut Children's, University of Connecticut, Farmington, CT, USA
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Affiliation as printed
Clinical Genetics Department, Erasmus Medical Centre, Rotterdam, the Netherlands
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Lyon 1 Université · Centre National de la Recherche Scientifique · Inserm · Centre de Recherche en Neurosciences de Lyon · Hospices Civils de Lyon
Affiliation as printed
Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France
Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France
Hospices Civils de Lyon, Service de Génétique - Centre de Référence Anomalies du Développement, Bron, France
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Children's Hospital of Eastern Ontario
Affiliation as printed
Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
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University Hospitals of Leicester NHS Trust
Affiliation as printed
Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK
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Michigan Medicine · C. S. Mott Children's Hospital
Affiliation as printed
Division of Pediatric Genetics, Metabolism, and Genomic Medicine, C.S. Mott Children's Hospital, Michigan Medicine, Ann Arbor, MI, USA
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Institute of Pathology and Genetics
Affiliation as printed
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium
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Affiliation as printed
Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA
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Affiliation as printed
Southern Illinois University School of Medicine, Department of Pediatrics, Springfield, IL, USA
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Friedrich-Alexander-Universität Erlangen-Nürnberg · Universitätsklinikum Erlangen
Affiliation as printed
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
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Friedrich-Alexander-Universität Erlangen-Nürnberg · Universitätsklinikum Erlangen
Affiliation as printed
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany
Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
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Friedrich-Alexander-Universität Erlangen-Nürnberg · Universitätsklinikum Erlangen
Affiliation as printed
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany
Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany
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Government of Western Australia Department of Health · King Edward Memorial Hospital
Affiliation as printed
Genetic Health Western Australia, Department of Health King Edward Memorial Hospital, Subiaco, WA 6008, Australia
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Radboud University Nijmegen · Erasmus MC · Radboud University Medical Center · Donders Institute for Brain, Cognition and Behaviour
Affiliation as printed
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands
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
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University of Toronto · North York General Hospital
Affiliation as printed
Genetics, North York General Hospital, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada
Genetics, North York General Hospital, Toronto, ON, Canada
University of Toronto, Toronto, ON, Canada
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University of Toronto · North York General Hospital
Affiliation as printed
Department of Medical Genetics, North York General Hospital, University of Toronto, Toronto, ON, Canada
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University Medical Center Groningen
Affiliation as printed
Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands
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Affiliation as printed
Neurodevelopmental Treatment Association Çocuk Fizyoterapistleri Derneği Bobath Terapistleri Derneği, Ankara, Turkey
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Inserm · Centre Hospitalier Universitaire de Montpellier · Institute for Neurosciences of Montpellier
Affiliation as printed
Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France; INSERM U1298, INM, Montpellier, France
Geriatrics department, Montpellier University Hospital, MUSE University, Montpellier, France
INSERM U1298, INM, Montpellier, France
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University Medical Center Utrecht
Affiliation as printed
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
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University Medical Center Utrecht
Affiliation as printed
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
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Federico II University Hospital · Telethon Institute Of Genetics And Medicine · University of Naples Federico II
Affiliation as printed
Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy; TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy
Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, Naples, Italy
TIGEM (Telethon Institute of Genetics and Medicine), Via Campi Flegrei 34, 80078 Pozzuoli (NA), Italy
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University of Antwerp · Antwerp University Hospital
Affiliation as printed
Department of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Wilrijk, Belgium
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Affiliation as printed
Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel
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Affiliation as printed
Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel
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Tel Aviv University · Sheba Medical Center
Affiliation as printed
Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel
Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv, Israel
Sheba Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel
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Affiliation as printed
Greenwood Genetic Center, Greenwood, SC, USA
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Affiliation as printed
GeneDx Inc., Gaithersburg, MD 20877, USA
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Affiliation as printed
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada
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Radboud University Nijmegen · Maastricht University Medical Centre · Radboud University Medical Center · Maastricht University
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Radboud University Nijmegen · Radboud University Medical Center
Affiliation as printed
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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Yoichi Shinkai corresponding
Affiliation as printed
Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan. Electronic address: yshinkai@riken.jp
Cellular Memory Laboratory, RIKEN Cluster for Pioneering Research, RIKEN, Wako, Saitama, Japan
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Tjitske Kleefstra corresponding
Radboud University Nijmegen · Erasmus MC · Radboud University Medical Center
Affiliation as printed
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl
Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
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