{"id":138759,"date":"2025-10-22T17:37:12","date_gmt":"2025-10-22T17:37:12","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/138759\/"},"modified":"2025-10-22T17:37:12","modified_gmt":"2025-10-22T17:37:12","slug":"pathogenic-unc13a-variants-cause-a-neurodevelopmental-syndrome-by-impairing-synaptic-function","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/138759\/","title":{"rendered":"Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function"},"content":{"rendered":"<li id=\"Aff1\">\n<p class=\"c-article-author-affiliation__address\">Institute of Medical Genetics, University of Zurich, Zurich, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Reza Asadollahi,\u00a0Paranchai Boonsawat,\u00a0Dennis Kraemer\u00a0&amp;\u00a0Anita Rauch<\/p>\n<\/li>\n<li id=\"Aff2\">\n<p class=\"c-article-author-affiliation__address\">Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Reza Asadollahi<\/p>\n<\/li>\n<li id=\"Aff3\">\n<p class=\"c-article-author-affiliation__address\">Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, G\u00f6ttingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Aisha Ahmad,\u00a0Mareike Lohse,\u00a0Mrinalini Ranjan,\u00a0Jeong Seop Rhee,\u00a0Holger Taschenberger,\u00a0Nils Brose\u00a0&amp;\u00a0Noa Lipstein<\/p>\n<\/li>\n<li id=\"Aff4\">\n<p class=\"c-article-author-affiliation__address\">Leibniz-Forschungsinstitut f\u00fcr Molekulare Pharmakologie (FMP), Berlin, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Aisha Ahmad,\u00a0Mareike Lohse,\u00a0Siqi Sun,\u00a0Tillmann Utesch,\u00a0Jonas D. Sommer,\u00a0Dragana Ilic,\u00a0Kati Fischermanns,\u00a0Moritz Boll,\u00a0Han Sun\u00a0&amp;\u00a0Noa Lipstein<\/p>\n<\/li>\n<li id=\"Aff5\">\n<p class=\"c-article-author-affiliation__address\">Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jasmine Shahanoor Hinzen,\u00a0Murugesh Padmanarayana\u00a0&amp;\u00a0Jeremy S. Dittman<\/p>\n<\/li>\n<li id=\"Aff6\">\n<p class=\"c-article-author-affiliation__address\">Institute of Neurophysiology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Boris Bouazza-Arostegui\u00a0&amp;\u00a0Christian Rosenmund<\/p>\n<\/li>\n<li id=\"Aff7\">\n<p class=\"c-article-author-affiliation__address\">Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Chandran Ka,\u00a0Sylvia Redon,\u00a0Kevin Uguen\u00a0&amp;\u00a0Gerald Le Gac<\/p>\n<\/li>\n<li id=\"Aff8\">\n<p class=\"c-article-author-affiliation__address\">Service de G\u00e9n\u00e9tique M\u00e9dicale et Biologie de la Reproduction, CHU de Brest, Brest, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Chandran Ka,\u00a0Sylvia Redon,\u00a0Kevin Uguen\u00a0&amp;\u00a0Gerald Le Gac<\/p>\n<\/li>\n<li id=\"Aff9\">\n<p class=\"c-article-author-affiliation__address\">Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Strasbourg, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Am\u00e9lie Piton\u00a0&amp;\u00a0Francesca Mattioli<\/p>\n<\/li>\n<li id=\"Aff10\">\n<p class=\"c-article-author-affiliation__address\">Nantes Universit\u00e9, CHU de Nantes, Service de G\u00e9n\u00e9tique m\u00e9dicale, Nantes, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Bertrand Isidor<\/p>\n<\/li>\n<li id=\"Aff11\">\n<p class=\"c-article-author-affiliation__address\">Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Katrin \u00d5unap\u00a0&amp;\u00a0Karit Reinson<\/p>\n<\/li>\n<li id=\"Aff12\">\n<p class=\"c-article-author-affiliation__address\">Institute of Clinical Medicine, University of Tartu, Tartu, Estonia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Katrin \u00d5unap\u00a0&amp;\u00a0Karit Reinson<\/p>\n<\/li>\n<li id=\"Aff13\">\n<p class=\"c-article-author-affiliation__address\">Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Monica H. Wojcik<\/p>\n<\/li>\n<li id=\"Aff14\">\n<p class=\"c-article-author-affiliation__address\">Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School, Boston, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Monica H. Wojcik<\/p>\n<\/li>\n<li id=\"Aff15\">\n<p class=\"c-article-author-affiliation__address\">Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Monica H. Wojcik<\/p>\n<\/li>\n<li id=\"Aff16\">\n<p class=\"c-article-author-affiliation__address\">Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Christian R. Marshall<\/p>\n<\/li>\n<li id=\"Aff17\">\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Saadet Mercimek-Andrews<\/p>\n<\/li>\n<li id=\"Aff18\">\n<p class=\"c-article-author-affiliation__address\">Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Naomichi Matsumoto\u00a0&amp;\u00a0Noriko Miyake<\/p>\n<\/li>\n<li id=\"Aff19\">\n<p class=\"c-article-author-affiliation__address\">Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Noriko Miyake<\/p>\n<\/li>\n<li id=\"Aff20\">\n<p class=\"c-article-author-affiliation__address\">Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Bruno de Oliveira Stephan,\u00a0Rachel Sayuri Honjo,\u00a0Debora R. Bertola\u00a0&amp;\u00a0Chong Ae Kim<\/p>\n<\/li>\n<li id=\"Aff21\">\n<p class=\"c-article-author-affiliation__address\">Division of Clinical Genetics, Joe DiMaggio Children\u2019s Hospital, Hollywood, FL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Roman Yusupov<\/p>\n<\/li>\n<li id=\"Aff22\">\n<p class=\"c-article-author-affiliation__address\">Center for Pediatric Neurological Disease Research, St. Jude Children\u2019s Hospital, Memphis, TN, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Heather C. Mefford<\/p>\n<\/li>\n<li id=\"Aff23\">\n<p class=\"c-article-author-affiliation__address\">Brain and Mitochondrial Research Group, Murdoch Children\u2019s Research Institute, Melbourne, Victoria, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">John Christodoulou\u00a0&amp;\u00a0Nicole J. Lake<\/p>\n<\/li>\n<li id=\"Aff24\">\n<p class=\"c-article-author-affiliation__address\">Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">John Christodoulou,\u00a0Natasha J. Brown\u00a0&amp;\u00a0Zornitza Stark<\/p>\n<\/li>\n<li id=\"Aff25\">\n<p class=\"c-article-author-affiliation__address\">Department of Metabolic Medicine, The Royal Children\u2019s Hospital, Melbourne, Victoria, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Joy Lee<\/p>\n<\/li>\n<li id=\"Aff26\">\n<p class=\"c-article-author-affiliation__address\">Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Victoria, Australia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Joy Lee,\u00a0Oliver Heath,\u00a0Natasha J. Brown,\u00a0Naomi Baker,\u00a0Zornitza Stark\u00a0&amp;\u00a0Martin Delatycki<\/p>\n<\/li>\n<li id=\"Aff27\">\n<p class=\"c-article-author-affiliation__address\">Department of Genetics, Yale School of Medicine, New Haven, CT, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Nicole J. Lake<\/p>\n<\/li>\n<li id=\"Aff28\">\n<p class=\"c-article-author-affiliation__address\">Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Shimriet Zeidler<\/p>\n<\/li>\n<li id=\"Aff29\">\n<p class=\"c-article-author-affiliation__address\">Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Linda Zuurbier\u00a0&amp;\u00a0Saskia M. Maas<\/p>\n<\/li>\n<li id=\"Aff30\">\n<p class=\"c-article-author-affiliation__address\">Emma Children\u2019s Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Chris C. de Kruiff<\/p>\n<\/li>\n<li id=\"Aff31\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetics and Genomics, Boston Children\u2019s Hospital, Boston, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Farrah Rajabi,\u00a0Lance H. Rodan\u00a0&amp;\u00a0Stephanie A. Coury<\/p>\n<\/li>\n<li id=\"Aff32\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Farrah Rajabi<\/p>\n<\/li>\n<li id=\"Aff33\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetics, Brigham and Women\u2019s Hospital, Boston, MA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Stephanie A. Coury<\/p>\n<\/li>\n<li id=\"Aff34\">\n<p class=\"c-article-author-affiliation__address\">Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Konrad Platzer,\u00a0Henry Oppermann\u00a0&amp;\u00a0Rami Abou Jamra<\/p>\n<\/li>\n<li id=\"Aff35\">\n<p class=\"c-article-author-affiliation__address\">Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Skadi Beblo<\/p>\n<\/li>\n<li id=\"Aff36\">\n<p class=\"c-article-author-affiliation__address\">Zentrum f\u00fcr Kinderneurologie, Hamburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Caroline Maxton<\/p>\n<\/li>\n<li id=\"Aff37\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroc\u0142aw, Wroc\u0142aw, Poland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Robert \u015amigiel<\/p>\n<\/li>\n<li id=\"Aff38\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Hunter Underhill<\/p>\n<\/li>\n<li id=\"Aff39\">\n<p class=\"c-article-author-affiliation__address\">Division of Neurology, Department of Pediatrics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Holly Dubbs,\u00a0Alyssa Rosen,\u00a0Katherine L. Helbig,\u00a0Ingo Helbig,\u00a0Sarah McKeown Ruggiero\u00a0&amp;\u00a0Mark P. Fitzgerald<\/p>\n<\/li>\n<li id=\"Aff40\">\n<p class=\"c-article-author-affiliation__address\">Epilepsy NeuroGenetics Initiative (ENGIN), Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Katherine L. Helbig,\u00a0Ingo Helbig,\u00a0Sarah McKeown Ruggiero\u00a0&amp;\u00a0Mark P. Fitzgerald<\/p>\n<\/li>\n<li id=\"Aff41\">\n<p class=\"c-article-author-affiliation__address\">The Center for Epilepsy and Neurodevelopmental Disorders, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ingo Helbig<\/p>\n<\/li>\n<li id=\"Aff42\">\n<p class=\"c-article-author-affiliation__address\">Department of Biomedical and Health Informatics (DBHi), Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ingo Helbig<\/p>\n<\/li>\n<li id=\"Aff43\">\n<p class=\"c-article-author-affiliation__address\">Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ingo Helbig\u00a0&amp;\u00a0Mark P. Fitzgerald<\/p>\n<\/li>\n<li id=\"Aff44\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Carlos E. Prada<\/p>\n<\/li>\n<li id=\"Aff45\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Carlos E. Prada<\/p>\n<\/li>\n<li id=\"Aff46\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jeffrey Tenney<\/p>\n<\/li>\n<li id=\"Aff47\">\n<p class=\"c-article-author-affiliation__address\">Division of Neurology, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jeffrey Tenney<\/p>\n<\/li>\n<li id=\"Aff48\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetics and Metabolism, Nicklaus Children\u2019s Hospital, Miami, FL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Parul Jayakar<\/p>\n<\/li>\n<li id=\"Aff49\">\n<p class=\"c-article-author-affiliation__address\">Pediatrics Department, Competence Center for Epilepsy, H\u00f4pital Morvan, CHU Brest, Brest, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">J\u00e9r\u00e9mie Lefranc<\/p>\n<\/li>\n<li id=\"Aff50\">\n<p class=\"c-article-author-affiliation__address\">Division of Biochemical Genetics, BC Children\u2019s Hospital, Vancouver, British Columbia, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Simone Race<\/p>\n<\/li>\n<li id=\"Aff51\">\n<p class=\"c-article-author-affiliation__address\">Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Stephanie Efthymiou,\u00a0Reza Maroofian\u00a0&amp;\u00a0Henry Houlden<\/p>\n<\/li>\n<li id=\"Aff52\">\n<p class=\"c-article-author-affiliation__address\">Center of Human Genetics, H\u00f4pital Universitaire de Bruxelles, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sandra Coppens<\/p>\n<\/li>\n<li id=\"Aff53\">\n<p class=\"c-article-author-affiliation__address\">Centre de R\u00e9f\u00e9rence Neuromusculaire and Paediatric Neurology Department, H\u00f4pital Universitaire des Enfants Reine Fabiola, H\u00f4pital Universitaire de Bruxelles (HUB), Universit\u00e9 Libre de Bruxelles, Brussels, Belgium<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Nicolas Deconinck<\/p>\n<\/li>\n<li id=\"Aff54\">\n<p class=\"c-article-author-affiliation__address\">School of Biotechnology, Madurai Kamaraj University, Madurai, India<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Balasubramaniem Ashokkumar\u00a0&amp;\u00a0Perumal Varalakshmi<\/p>\n<\/li>\n<li id=\"Aff55\">\n<p class=\"c-article-author-affiliation__address\">Indira Gandhi Institute of Child Health, Bangalore, India<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Vykunta Raju Gowda K<\/p>\n<\/li>\n<li id=\"Aff56\">\n<p class=\"c-article-author-affiliation__address\">Bangalore Child Neurology and Rehabilitation Center, Bangalore, India<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Vykunta Raju Gowda K<\/p>\n<\/li>\n<li id=\"Aff57\">\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Fatemeh Eghbal\u00a0&amp;\u00a0Ehsan Ghayoor Karimiani<\/p>\n<\/li>\n<li id=\"Aff58\">\n<p class=\"c-article-author-affiliation__address\">Myelin Disorders Clinic, Department of Pediatric Neurology, Children\u2019s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Morteza Heidari<\/p>\n<\/li>\n<li id=\"Aff59\">\n<p class=\"c-article-author-affiliation__address\">Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universit\u00e4t Oldenburg, Oldenburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">John Neidhardt\u00a0&amp;\u00a0Marta Owczarek-Lipska<\/p>\n<\/li>\n<li id=\"Aff60\">\n<p class=\"c-article-author-affiliation__address\">Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">John Neidhardt\u00a0&amp;\u00a0Marta Owczarek-Lipska<\/p>\n<\/li>\n<li id=\"Aff61\">\n<p class=\"c-article-author-affiliation__address\">Department of Neuropediatrics, University Children\u2019s Hospital, Klinikum Oldenburg, Oldenburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">G. Christoph Korenke<\/p>\n<\/li>\n<li id=\"Aff62\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Michael J. Bamshad<\/p>\n<\/li>\n<li id=\"Aff63\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Philippe M. Campeau<\/p>\n<\/li>\n<li id=\"Aff64\">\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Anna Lehman<\/p>\n<\/li>\n<li id=\"Aff65\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Laura G. Hendon<\/p>\n<\/li>\n<li id=\"Aff66\">\n<p class=\"c-article-author-affiliation__address\">GeneDx, LLC, Gaithersburg, MD, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ingrid M. Wentzensen,\u00a0Kristin G. Monaghan\u00a0&amp;\u00a0Yanmin Chen<\/p>\n<\/li>\n<li id=\"Aff67\">\n<p class=\"c-article-author-affiliation__address\">The Hospital for Sick Children, Toronto, Ontario, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Anna Szuto\u00a0&amp;\u00a0Ronald D. Cohn<\/p>\n<\/li>\n<li id=\"Aff68\">\n<p class=\"c-article-author-affiliation__address\">Department of Medical Genetics, Alberta Children\u2019s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ping Yee Billie Au<\/p>\n<\/li>\n<li id=\"Aff69\">\n<p class=\"c-article-author-affiliation__address\">Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universit\u00e4t Dresden, Dresden, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Christoph H\u00fcbner<\/p>\n<\/li>\n<li id=\"Aff70\">\n<p class=\"c-article-author-affiliation__address\">Institut f\u00fcr Medizinische Genetik und Humangenetik, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt-Universit\u00e4t zu Berlin, Berlin, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Felix Boschann<\/p>\n<\/li>\n<li id=\"Aff71\">\n<p class=\"c-article-author-affiliation__address\">BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Felix Boschann<\/p>\n<\/li>\n<li id=\"Aff72\">\n<p class=\"c-article-author-affiliation__address\">Division of Genetic and Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kandamurugu Manickam<\/p>\n<\/li>\n<li id=\"Aff73\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kandamurugu Manickam\u00a0&amp;\u00a0Daniel C. Koboldt<\/p>\n<\/li>\n<li id=\"Aff74\">\n<p class=\"c-article-author-affiliation__address\">The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Daniel C. Koboldt<\/p>\n<\/li>\n<li id=\"Aff75\">\n<p class=\"c-article-author-affiliation__address\">Arcensus GmbH, Rostock, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Aboulfazl Rad\u00a0&amp;\u00a0Gabriela Oprea<\/p>\n<\/li>\n<li id=\"Aff76\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, Women\u2019s and Children\u2019s Institute, Geisinger Medical Center, Danville, PA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Kristine K. Bachman\u00a0&amp;\u00a0Andrea H. Seeley<\/p>\n<\/li>\n<li id=\"Aff77\">\n<p class=\"c-article-author-affiliation__address\">Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Emanuele Agolini\u00a0&amp;\u00a0Alessandra Terracciano<\/p>\n<\/li>\n<li id=\"Aff78\">\n<p class=\"c-article-author-affiliation__address\">Medical and Laboratory Genetics Unit, A.O.R.N. \u201cAntonio Cardarelli\u201d, Naples, Italy<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Piscopo Carmelo<\/p>\n<\/li>\n<li id=\"Aff79\">\n<p class=\"c-article-author-affiliation__address\">Corewell Health West Helen DeVos Children\u2019s Hospital, Grand Rapids, MI, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Caleb Bupp\u00a0&amp;\u00a0Bethany Grysko<\/p>\n<\/li>\n<li id=\"Aff80\">\n<p class=\"c-article-author-affiliation__address\">The Institute for Rare Diseases, Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center, Ramat Gan, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Annick Rein-Rothschild<\/p>\n<\/li>\n<li id=\"Aff81\">\n<p class=\"c-article-author-affiliation__address\">School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Annick Rein-Rothschild\u00a0&amp;\u00a0Bruria Ben Zeev<\/p>\n<\/li>\n<li id=\"Aff82\">\n<p class=\"c-article-author-affiliation__address\">Pediatric Neurology Unit, The Edmond and Lily Safra Children\u2019s Hospital, Sheba Medical Center, Ramat Gan, Israel<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Bruria Ben Zeev<\/p>\n<\/li>\n<li id=\"Aff83\">\n<p class=\"c-article-author-affiliation__address\">Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Amy Margolin,\u00a0Jennifer Morrison\u00a0&amp;\u00a0Aditi Dagli<\/p>\n<\/li>\n<li id=\"Aff84\">\n<p class=\"c-article-author-affiliation__address\">Greenwood Genetic Center, Greenwood, SC, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Elliot Stolerman,\u00a0Raymond J. Louie\u00a0&amp;\u00a0Camerun Washington<\/p>\n<\/li>\n<li id=\"Aff85\">\n<p class=\"c-article-author-affiliation__address\">Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Servi J. C. Stevens\u00a0&amp;\u00a0Malou Heijligers<\/p>\n<\/li>\n<li id=\"Aff86\">\n<p class=\"c-article-author-affiliation__address\">Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Fowzan S. Alkuraya<\/p>\n<\/li>\n<li id=\"Aff87\">\n<p class=\"c-article-author-affiliation__address\">College of Medicine, Alfaisal University, Riyadh, Saudi Arabia<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Fowzan S. Alkuraya<\/p>\n<\/li>\n<li id=\"Aff88\">\n<p class=\"c-article-author-affiliation__address\">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Jasmin Lisfeld<\/p>\n<\/li>\n<li id=\"Aff89\">\n<p class=\"c-article-author-affiliation__address\">Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Axel Neu<\/p>\n<\/li>\n<li id=\"Aff90\">\n<p class=\"c-article-author-affiliation__address\">Medical Department, Mendelics Genomic Analysis, S\u00e3o Paulo, Brazil<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Fab\u00edola Paoli Monteiro<\/p>\n<\/li>\n<li id=\"Aff91\">\n<p class=\"c-article-author-affiliation__address\">Federal University of Cear\u00e1 &#8211; UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Andr\u00e9 Luiz Santos Pessoa\u00a0&amp;\u00a0Antonio Edvan Camelo-Filho<\/p>\n<\/li>\n<li id=\"Aff92\">\n<p class=\"c-article-author-affiliation__address\">Department of Neurology, Neurogenetics Center, University of S\u00e3o Paulo, S\u00e3o Paulo, Brazil<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Fernando Kok<\/p>\n<\/li>\n<li id=\"Aff93\">\n<p class=\"c-article-author-affiliation__address\">Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Dwight Koeberl\u00a0&amp;\u00a0Kacie Riley<\/p>\n<\/li>\n<li id=\"Aff94\">\n<p class=\"c-article-author-affiliation__address\">D\u00e9partement de G\u00e9n\u00e9tique, Centre de r\u00e9f\u00e9rence des malformations et maladies cong\u00e9nitales du cervelet, H\u00f4pital Trousseau, AP-HP.Sorbonne Universit\u00e9, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Lydie Burglen<\/p>\n<\/li>\n<li id=\"Aff95\">\n<p class=\"c-article-author-affiliation__address\">Service de Neurop\u00e9diatrie-Pathologie du D\u00e9veloppement, Centre de R\u00e9f\u00e9rence Neurog\u00e9n\u00e9tique, H\u00f4pital Trousseau, FHU I2-D2, AP-HP.Sorbonne Universit\u00e9, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Diane Doummar\u00a0&amp;\u00a0B\u00e9n\u00e9dicte H\u00e9ron<\/p>\n<\/li>\n<li id=\"Aff96\">\n<p class=\"c-article-author-affiliation__address\">D\u00e9partement de g\u00e9n\u00e9tique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Centre de R\u00e9f\u00e9rences D\u00e9ficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Universit\u00e9, Paris, France<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Cyril Mignot,\u00a0Boris Keren,\u00a0Perrine Charles\u00a0&amp;\u00a0Caroline Nava<\/p>\n<\/li>\n<li id=\"Aff97\">\n<p class=\"c-article-author-affiliation__address\">Department of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Felix P. Bernhard<\/p>\n<\/li>\n<li id=\"Aff98\">\n<p class=\"c-article-author-affiliation__address\">Movement Disorders and Neuromodulation Unit, Department of Neurology, Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin, Berlin, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Andrea A. K\u00fchn<\/p>\n<\/li>\n<li id=\"Aff99\">\n<p class=\"c-article-author-affiliation__address\">Biochemistry and Molecular Medicine, Medical School OWL, Bielefeld University, Bielefeld, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sven Thoms<\/p>\n<\/li>\n<li id=\"Aff100\">\n<p class=\"c-article-author-affiliation__address\">Trace Neuroscience, South San Francisco, CA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Ryan D. Morrie,\u00a0Shila Mekhoubad\u00a0&amp;\u00a0Eric M. Green<\/p>\n<\/li>\n<li id=\"Aff101\">\n<p class=\"c-article-author-affiliation__address\">University of Michigan School of Medicine, Ann Arbor, MI, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Sami J. Barmada<\/p>\n<\/li>\n<li id=\"Aff102\">\n<p class=\"c-article-author-affiliation__address\">Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Aaron D. Gitler<\/p>\n<\/li>\n<li id=\"Aff103\">\n<p class=\"c-article-author-affiliation__address\">Neuroproteomics Group, Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, G\u00f6ttingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Olaf Jahn<\/p>\n<\/li>\n<li id=\"Aff104\">\n<p class=\"c-article-author-affiliation__address\">Translational Neuroproteomics Group, Department of Psychiatry and Psychotherapy, University Medical Center G\u00f6ttingen, G\u00f6ttingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Olaf Jahn<\/p>\n<\/li>\n<li id=\"Aff105\">\n<p class=\"c-article-author-affiliation__address\">City Campus Light Microscopy Facility, Max Planck Institute for Multidisciplinary Sciences, G\u00f6ttingen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Mi\u0161o Mitkovski<\/p>\n<\/li>\n<li id=\"Aff106\">\n<p class=\"c-article-author-affiliation__address\">Institute of Biochemistry, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg (FAU), Erlangen, Germany<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Heinrich Sticht<\/p>\n<\/li>\n<li id=\"Aff107\">\n<p class=\"c-article-author-affiliation__address\">Children\u2019s Hospital, University Zurich, Zurich, Switzerland<\/p>\n<p class=\"c-article-author-affiliation__authors-list\">Anita Rauch<\/p>\n<\/li>\n<p>N.L., R.A., A. Rauch, H.T. and N. Brose conceptualized the study. N.L., R.A., A. Rauch, H.T., C.R., J.S.R., H. Sun, M.M., J.S.D., G.L.G. and H. Sticht devised the methodology. N.L., A.A., B.B.-A., H.T., R.A., M.L., M.M., M.P., D.I., P.B., T.U., M.B., M.R., J.S.D., G.L.G. and S.T. conducted the formal analysis. N.L., A.A., R.A., P.B., C.K., J.S.H., M.L., B.B.-A., S.S., T.U., J.D.S., D.I., O.J., M.B., M.P., K.F., D. Kraemer, J.D.S. and H. Sticht performed the investigation. N.L., N. Brose and R.A. wrote the original draft of the paper. N.L., R.A., P.B., M.L., M.M., T.U., H. Sticht, B.B.-A., C.K., G.L.G., J.S.D. and A.E.C.-F. were responsible for visualization. N.L., R.A., A. Rauch, N. Brose, C.R., J.S.D. and G.L.G. supervised the study. N.L., R.A., A. Rauch and N. Brose acquired funding. A.A.K., A. Rad, A.D., A.D.G., A.E.C.-F., A.H.S., A.L., A. Rosen, A.L.S.P., A.M., A.N., A.P., A.R.-R., A.S., A.T., B.A., B.B.Z., B.d.O.S., B.G., B.H., B.I., B.K., C.A.K., C. Maxton, C.B., C.C.d.K., C.E.P., C.H., C.N., C.R.M., C.W., C. Mignot, D.C.K., D.D., D.R.B., D. Koeberl, E.A., E.G.K., E.M.G., E.S., F.B., F.E., F.K., F.M., F.P.B., F.P.M., F.R., F.S.A., G.C.K., G.O., H.C.M., H.D., H.H., H.O., H.U., I.H., I.M.W., J. Lisfeld, J.C., J. Lefranc, J.M., J.N., J. Lee, J.T., K. Riley, K. Reinson, K.G.M., K.L.H., K.K.B., K.M., K.\u00d5., K.P., K.U., L.B., L.G.H., L.H.R., L.Z., M. Heijligers, M.D., M.H.W., M.J.B., M. Heidari, M.O.-L., M.P.F., N. Baker, N. Matsumoto, N.D., N.J.B., N.J.L., N. Miyake, O.H., P. Charles, P. Carmelo, P.J., P.M.C., P.V., P.Y.B.A., R.A.J., R.C., R.M., R.S.H., R.J.L., R.\u015a., R.Y., R.D.M., S.A.C., S.C., S.B., S.E., S. Race, S.J.B., S.J.C.S., S.M., S.M.-A., S.M.M., S.M.R., S. Redon, S.Z., V.R.G.K., Y.C. and Z.S. acquired resources (genetic, diagnostic and clinical information). All authors read, reviewed, edited and approved the paper.<\/p>\n","protected":false},"excerpt":{"rendered":"Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi,\u00a0Paranchai Boonsawat,\u00a0Dennis Kraemer\u00a0&amp;\u00a0Anita Rauch Faculty of Engineering and&hellip;\n","protected":false},"author":2,"featured_media":138760,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[272],"tags":[2567,2569,2564,2566,18,2568,910,12628,458,2565,19,17,4265,1281,133],"class_list":{"0":"post-138759","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-agriculture","9":"tag-animal-genetics-and-genomics","10":"tag-biomedicine","11":"tag-cancer-research","12":"tag-eire","13":"tag-gene-function","14":"tag-general","15":"tag-genetic-testing","16":"tag-genetics","17":"tag-human-genetics","18":"tag-ie","19":"tag-ireland","20":"tag-neurodevelopmental-disorders","21":"tag-neuroscience","22":"tag-science"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/138759","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=138759"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/138759\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/138760"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=138759"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=138759"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=138759"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}