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De novo variants in neurodevelopmental disorders with epilepsy.

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第一作者: Henrike O,Heyne
第一单位: University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.;Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA. hheyne@broadinstitute.org.;Integrated Research and Treatment Center (IFB) Adiposity Diseases, University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. hheyne@broadinstitute.org.
作者单位: University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.;Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA. hheyne@broadinstitute.org.;Integrated Research and Treatment Center (IFB) Adiposity Diseases, University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. hheyne@broadinstitute.org. [1] Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. [2] Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.;Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Division of Neurology, University Hospital Antwerp, Antwerp, Belgium. [3] University of Leipzig Hospitals and Clinics, Leipzig, Germany. [4] Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey. [5] 'Carol Davila' University of Medicine Bucharest, Department of Clinical Neurosciences (No. 6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania. [6] Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italy. [7] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [8] Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [9] Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. [10] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. [11] Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany. [12] Danish Epilepsy Centre, Dianalund, Denmark.;Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark. [13] Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany. [14] Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA. [15] Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genoa, Italy. [16] Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA. [17] Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA, USA. [18] Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [19] Department of Clinical and Experimental Epilepsy, NIHR, University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK.;The Epilepsy Society, Chalfont-St-Peter Bucks, UK. [20] Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany. [21] Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.;Cologne Center for Genomics (CCG), Cologne, Germany. [22] University of Leipzig Hospitals and Clinics, Leipzig, Germany. johannes.lemke@medizin.uni-leipzig.de. [23]
DOI 10.1038/s41588-018-0143-7
PMID 29942082
发布时间 2022-04-09
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