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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

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Title: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Authors: Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk., Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA., Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA., Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France., Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Lake NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands., Maas SM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands., de Kruiff CC; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Beblo S; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany., Maxton C; Zentrum für Kinderneurologie, Hamburg, Germany., Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland., Underhill H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Dubbs H; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rosen A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ruggiero SM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fitzgerald MP; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kraemer D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Prada CE; Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Tenney J; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA., Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Lefranc J; Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France., Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Race S; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Coppens S; Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Deconinck N; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium., Ashokkumar B; School of Biotechnology, Madurai Kamaraj University, Madurai, India., Varalakshmi P; School of Biotechnology, Madurai Kamaraj University, Madurai, India., Gowda K VR; Indira Gandhi Institute of Child Health, Bangalore, India.; Bangalore Child Neurology and Rehabilitation Center, Bangalore, India., Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran., Neidhardt J; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany., Owczarek-Lipska M; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada., Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA., Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA., Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA., Chen Y; GeneDx, LLC, Gaithersburg, MD, USA., Szuto A; The Hospital for Sick Children, Toronto, Ontario, Canada., Cohn RD; The Hospital for Sick Children, Toronto, Ontario, Canada., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Hübner C; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Boschann F; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Rad A; Arcensus GmbH, Rostock, Germany., Oprea G; Arcensus GmbH, Rostock, Germany., Bachman KK; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA., Seeley AH; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carmelo P; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Naples, Italy., Bupp C; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Grysko B; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Rein-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Ben Zeev B; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Margolin A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA., Morrison J; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA., Dagli A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Washington C; Greenwood Genetic Center, Greenwood, SC, USA., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Paoli Monteiro F; Medical Department, Mendelics Genomic Analysis, São Paulo, Brazil., Santos Pessoa AL; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil., Camelo-Filho AE; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil., Kok F; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil., Koeberl D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Riley K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France., Doummar D; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France., Héron B; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France., Mignot C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France., Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France., Nava C; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France., Bernhard FP; Department of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany., Kühn AA; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Thoms S; Biochemistry and Molecular Medicine, Medical School OWL, Bielefeld University, Bielefeld, Germany., Morrie RD; Trace Neuroscience, South San Francisco, CA, USA., Mekhoubad S; Trace Neuroscience, South San Francisco, CA, USA., Green EM; Trace Neuroscience, South San Francisco, CA, USA., Barmada SJ; University of Michigan School of Medicine, Ann Arbor, MI, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Jahn O; Neuroproteomics Group, Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Translational Neuroproteomics Group, Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany., Rhee JS; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Rosenmund C; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Mitkovski M; City Campus Light Microscopy Facility, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Sun H; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany., Le Gac G; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Taschenberger H; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Brose N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany., Dittman JS; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Children's Hospital, University Zurich, Zurich, Switzerland., Lipstein N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. Lipstein@FMP-berlin.de.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany. Lipstein@FMP-berlin.de.
Source: Nature genetics [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. Date of Electronic Publication: 2025 Oct 22.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
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  Data: <searchLink fieldCode="AU" term="%22Asadollahi+R%22">Asadollahi R</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.<br /><searchLink fieldCode="AU" term="%22Ahmad+A%22">Ahmad A</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Boonsawat+P%22">Boonsawat P</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Shahanoor+Hinzen+J%22">Shahanoor Hinzen J</searchLink>; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Lohse+M%22">Lohse M</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Bouazza-Arostegui+B%22">Bouazza-Arostegui B</searchLink>; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Sun+S%22">Sun S</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Utesch+T%22">Utesch T</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Sommer+JD%22">Sommer JD</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ilic+D%22">Ilic D</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Padmanarayana+M%22">Padmanarayana M</searchLink>; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Fischermanns+K%22">Fischermanns K</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ranjan+M%22">Ranjan M</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Boll+M%22">Boll M</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Ka+C%22">Ka C</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Mattioli+F%22">Mattioli F</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Reinson+K%22">Reinson K</searchLink>; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Mercimek-Andrews+S%22">Mercimek-Andrews S</searchLink>; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyake+N%22">Miyake N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Stephan+BO%22">Stephan BO</searchLink>; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Honjo+RS%22">Honjo RS</searchLink>; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Bertola+DR%22">Bertola DR</searchLink>; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kim+CA%22">Kim CA</searchLink>; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Yusupov+R%22">Yusupov R</searchLink>; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.<br /><searchLink fieldCode="AU" term="%22Mefford+HC%22">Mefford HC</searchLink>; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Heath+O%22">Heath O</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Brown+NJ%22">Brown NJ</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Baker+N%22">Baker N</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+M%22">Delatycki M</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lake+NJ%22">Lake NJ</searchLink>; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Zeidler+S%22">Zeidler S</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zuurbier+L%22">Zuurbier L</searchLink>; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Maas+SM%22">Maas SM</searchLink>; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Kruiff+CC%22">de Kruiff CC</searchLink>; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Rajabi+F%22">Rajabi F</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Rodan+LH%22">Rodan LH</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Coury+SA%22">Coury SA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Oppermann+H%22">Oppermann H</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Beblo+S%22">Beblo S</searchLink>; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Maxton+C%22">Maxton C</searchLink>; Zentrum für Kinderneurologie, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Śmigiel+R%22">Śmigiel R</searchLink>; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland.<br /><searchLink fieldCode="AU" term="%22Underhill+H%22">Underhill H</searchLink>; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Dubbs+H%22">Dubbs H</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Rosen+A%22">Rosen A</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+KL%22">Helbig KL</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Ruggiero+SM%22">Ruggiero SM</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Fitzgerald+MP%22">Fitzgerald MP</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kraemer+D%22">Kraemer D</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Prada+CE%22">Prada CE</searchLink>; Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Tenney+J%22">Tenney J</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Jayakar+P%22">Jayakar P</searchLink>; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Redon+S%22">Redon S</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Lefranc+J%22">Lefranc J</searchLink>; Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Uguen+K%22">Uguen K</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Race+S%22">Race S</searchLink>; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Coppens+S%22">Coppens S</searchLink>; Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Deconinck+N%22">Deconinck N</searchLink>; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Ashokkumar+B%22">Ashokkumar B</searchLink>; School of Biotechnology, Madurai Kamaraj University, Madurai, India.<br /><searchLink fieldCode="AU" term="%22Varalakshmi+P%22">Varalakshmi P</searchLink>; School of Biotechnology, Madurai Kamaraj University, Madurai, India.<br /><searchLink fieldCode="AU" term="%22Gowda+K+VR%22">Gowda K VR</searchLink>; Indira Gandhi Institute of Child Health, Bangalore, India.; Bangalore Child Neurology and Rehabilitation Center, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Eghbal+F%22">Eghbal F</searchLink>; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Ghayoor+Karimiani+E%22">Ghayoor Karimiani E</searchLink>; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.<br /><searchLink fieldCode="AU" term="%22Heidari+M%22">Heidari M</searchLink>; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Neidhardt+J%22">Neidhardt J</searchLink>; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Owczarek-Lipska+M%22">Owczarek-Lipska M</searchLink>; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Korenke+GC%22">Korenke GC</searchLink>; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Hendon+LG%22">Hendon LG</searchLink>; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Szuto+A%22">Szuto A</searchLink>; The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Cohn+RD%22">Cohn RD</searchLink>; The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Hübner+C%22">Hübner C</searchLink>; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.<br /><searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Manickam+K%22">Manickam K</searchLink>; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Koboldt+DC%22">Koboldt DC</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Oprea+G%22">Oprea G</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Bachman+KK%22">Bachman KK</searchLink>; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Seeley+AH%22">Seeley AH</searchLink>; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Agolini+E%22">Agolini E</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Terracciano+A%22">Terracciano A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Carmelo+P%22">Carmelo P</searchLink>; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Bupp+C%22">Bupp C</searchLink>; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Grysko+B%22">Grysko B</searchLink>; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Rein-Rothschild+A%22">Rein-Rothschild A</searchLink>; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Ben+Zeev+B%22">Ben Zeev B</searchLink>; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Margolin+A%22">Margolin A</searchLink>; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Morrison+J%22">Morrison J</searchLink>; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Dagli+A%22">Dagli A</searchLink>; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.<br /><searchLink fieldCode="AU" term="%22Stolerman+E%22">Stolerman E</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Washington+C%22">Washington C</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Stevens+SJC%22">Stevens SJC</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Heijligers+M%22">Heijligers M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Lisfeld+J%22">Lisfeld J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Neu+A%22">Neu A</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Paoli+Monteiro+F%22">Paoli Monteiro F</searchLink>; Medical Department, Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Santos+Pessoa+AL%22">Santos Pessoa AL</searchLink>; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Camelo-Filho+AE%22">Camelo-Filho AE</searchLink>; Federal University of Ceará - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Department of Neurology, Neurogenetics Center, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Koeberl+D%22">Koeberl D</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Riley+K%22">Riley K</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, Hôpital Trousseau, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Doummar+D%22">Doummar D</searchLink>; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+B%22">Héron B</searchLink>; Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau, FHU I2-D2, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; Département de génétique, Hôpital Pitié-Salpêtrière, Centre de Références Déficiences Intellectuelles de Causes Rares, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bernhard+FP%22">Bernhard FP</searchLink>; Department of Psychiatry and Psychotherapy, University of Marburg, Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kühn+AA%22">Kühn AA</searchLink>; Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Thoms+S%22">Thoms S</searchLink>; Biochemistry and Molecular Medicine, Medical School OWL, Bielefeld University, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Morrie+RD%22">Morrie RD</searchLink>; Trace Neuroscience, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Mekhoubad+S%22">Mekhoubad S</searchLink>; Trace Neuroscience, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Green+EM%22">Green EM</searchLink>; Trace Neuroscience, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Barmada+SJ%22">Barmada SJ</searchLink>; University of Michigan School of Medicine, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Gitler+AD%22">Gitler AD</searchLink>; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Jahn+O%22">Jahn O</searchLink>; Neuroproteomics Group, Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Translational Neuroproteomics Group, Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rhee+JS%22">Rhee JS</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rosenmund+C%22">Rosenmund C</searchLink>; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Mitkovski+M%22">Mitkovski M</searchLink>; City Campus Light Microscopy Facility, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Sticht+H%22">Sticht H</searchLink>; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Sun+H%22">Sun H</searchLink>; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Le+Gac+G%22">Le Gac G</searchLink>; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Taschenberger+H%22">Taschenberger H</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Brose+N%22">Brose N</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Dittman+JS%22">Dittman JS</searchLink>; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Children's Hospital, University Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lipstein+N%22">Lipstein N</searchLink>; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. Lipstein@FMP-berlin.de.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany. Lipstein@FMP-berlin.de.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2025 Nov; Vol. 57 (11), pp. 2691-2704. <i>Date of Electronic Publication: </i>2025 Oct 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Co%22">Nature Pub. Co </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9216904 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-1718 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210614036%22">10614036 </searchLink><i>NLM ISO Abbreviation: </i>Nat Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s41588-025-02361-5
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        Text: English
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        StartPage: 2691
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      – TitleFull: Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
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    IsPartOfRelationships:
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          Dates:
            – D: 01
              M: 11
              Text: 2025 Nov
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1546-1718
          Numbering:
            – Type: volume
              Value: 57
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Nature genetics
              Type: main
ResultId 1