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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

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Title: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Authors: Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Battig MR; Center for Applied Genomics, and., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain., Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; Center for Applied Genomics, and., Hou C; Center for Applied Genomics, and., O'Connor N; Center for Applied Genomics, and., Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, and., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Towne M; Ambry Genetics, Aliso Viejo, California, USA., Li M; Invitae, San Francisco, California, USA., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom., Faghfoury H; University Health Network, Toronto, Ontario, Canada., Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA., Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA., Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France., Maas SM; Department of Human Genetics, Academic Medical Center, and., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Wilson A; New York Genome Center, New York, New York, USA., Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France., Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA., Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Arena A; Oasi Research Institute-IRCCS, Troina, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France., Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA., Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France., Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France., Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Halligan RK; Metabolic Clinic, and., Biswas S; Metabolic Clinic, and., Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia., Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA., Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Source: The Journal of clinical investigation [J Clin Invest] 2024 Jan 02; Vol. 134 (1). Date of Electronic Publication: 2024 Jan 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37962958
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Wang+Q%22">Wang Q</searchLink>; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Battig+MR%22">Battig MR</searchLink>; Center for Applied Genomics, and.<br /><searchLink fieldCode="AU" term="%22Zhou+Y%22">Zhou Y</searchLink>; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Bosch+DG%22">Bosch DG</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haaften+G%22">van Haaften G</searchLink>; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Granger+L%22">Granger L</searchLink>; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Petersen+AK%22">Petersen AK</searchLink>; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Pérez-Jurado+LA%22">Pérez-Jurado LA</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aznar-Laín+G%22">Aznar-Laín G</searchLink>; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aneja+A%22">Aneja A</searchLink>; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Hancarova+M%22">Hancarova M</searchLink>; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Bendova+S%22">Bendova S</searchLink>; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Schwarz+M%22">Schwarz M</searchLink>; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Kremlikova+Pourova+R%22">Kremlikova Pourova R</searchLink>; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Sedlacek+Z%22">Sedlacek Z</searchLink>; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Keena+BA%22">Keena BA</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22March+ME%22">March ME</searchLink>; Center for Applied Genomics, and.<br /><searchLink fieldCode="AU" term="%22Hou+C%22">Hou C</searchLink>; Center for Applied Genomics, and.<br /><searchLink fieldCode="AU" term="%22O'Connor+N%22">O'Connor N</searchLink>; Center for Applied Genomics, and.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Harr+MH%22">Harr MH</searchLink>; Center for Applied Genomics, and.<br /><searchLink fieldCode="AU" term="%22Lemire+G%22">Lemire G</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Towne+M%22">Towne M</searchLink>; Ambry Genetics, Aliso Viejo, California, USA.<br /><searchLink fieldCode="AU" term="%22Li+M%22">Li M</searchLink>; Invitae, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Tarnopolsky+M%22">Tarnopolsky M</searchLink>; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Brady+L%22">Brady L</searchLink>; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Faghfoury+H%22">Faghfoury H</searchLink>; University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Parsley+LK%22">Parsley LK</searchLink>; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, 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="%22Dentici+ML%22">Dentici ML</searchLink>; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Wright+M%22">Wright M</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Palmquist+R%22">Palmquist R</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Lai+K%22">Lai K</searchLink>; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.<br /><searchLink fieldCode="AU" term="%22Iacomino+M%22">Iacomino M</searchLink>; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Cooper+A%22">Cooper A</searchLink>; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Maarup+TJ%22">Maarup TJ</searchLink>; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Byler+M%22">Byler M</searchLink>; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lebel+RR%22">Lebel RR</searchLink>; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.<br /><searchLink fieldCode="AU" term="%22Balci+TB%22">Balci TB</searchLink>; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Louie+R%22">Louie R</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Lyons+M%22">Lyons M</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Douglas+J%22">Douglas J</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Nowak+C%22">Nowak C</searchLink>; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Afenjar+A%22">Afenjar A</searchLink>; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hoyer+J%22">Hoyer J</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maas+SM%22">Maas SM</searchLink>; Department of Human Genetics, Academic Medical Center, and.<br /><searchLink fieldCode="AU" term="%22Motazacker+MM%22">Motazacker MM</searchLink>; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Rabani+AM%22">Rabani AM</searchLink>; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22McCormick+EM%22">McCormick EM</searchLink>; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.<br /><searchLink fieldCode="AU" term="%22Falk+MJ%22">Falk MJ</searchLink>; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.<br /><searchLink fieldCode="AU" term="%22Ruggiero+SM%22">Ruggiero SM</searchLink>; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+I%22">Helbig I</searchLink>; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Tessarollo+L%22">Tessarollo L</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Tomassoni+Ardori+F%22">Tomassoni Ardori F</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Palko+ME%22">Palko ME</searchLink>; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Hsieh+TC%22">Hsieh TC</searchLink>; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Krawitz+PM%22">Krawitz PM</searchLink>; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Ganapathi+M%22">Ganapathi M</searchLink>; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Gelb+BD%22">Gelb BD</searchLink>; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Jobanputra+V%22">Jobanputra V</searchLink>; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+A%22">Wilson A</searchLink>; New York Genome Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Greally+J%22">Greally J</searchLink>; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22Jacquemont+S%22">Jacquemont S</searchLink>; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Jizi+K%22">Jizi K</searchLink>; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Misra+VK%22">Misra VK</searchLink>; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Chick+E%22">Chick E</searchLink>; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Romano+C%22">Romano C</searchLink>; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Greco+D%22">Greco D</searchLink>; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Arena+A%22">Arena A</searchLink>; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Morleo+M%22">Morleo M</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Seyama+R%22">Seyama R</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Uchiyama+Y%22">Uchiyama Y</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.<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="%22Taira+R%22">Taira R</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Tashiro+K%22">Tashiro K</searchLink>; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan.<br /><searchLink fieldCode="AU" term="%22Sakai+Y%22">Sakai Y</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Yigit+G%22">Yigit G</searchLink>; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wollnik+B%22">Wollnik B</searchLink>; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kutsche+B%22">Kutsche B</searchLink>; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hurst+AC%22">Hurst AC</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.<br /><searchLink fieldCode="AU" term="%22Schmidt+R%22">Schmidt R</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Randolph+L%22">Randolph L</searchLink>; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Spillmann+RC%22">Spillmann RC</searchLink>; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Shashi+V%22">Shashi V</searchLink>; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Higginbotham+EJ%22">Higginbotham EJ</searchLink>; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and.<br /><searchLink fieldCode="AU" term="%22Cordeiro+D%22">Cordeiro D</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Carnevale+A%22">Carnevale A</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Khan+T%22">Khan T</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Funalot+B%22">Funalot B</searchLink>; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Fernandez+Garcia+Moya+L%22">Fernandez Garcia Moya L</searchLink>; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22García-Miñaúr+S%22">García-Miñaúr S</searchLink>; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Osmond+M%22">Osmond M</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Chad+L%22">Chad L</searchLink>; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Quercia+N%22">Quercia N</searchLink>; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Carrasco+D%22">Carrasco D</searchLink>; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Sanchez-Valle+A%22">Sanchez-Valle A</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Kelley+M%22">Kelley M</searchLink>; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Jensson+BO%22">Jensson BO</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Sulem+P%22">Sulem P</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Stefansson+K%22">Stefansson K</searchLink>; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Busa+T%22">Busa T</searchLink>; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Rio+M%22">Rio M</searchLink>; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hadj+Habdallah+H%22">Hadj Habdallah H</searchLink>; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lesieur-Sebellin+M%22">Lesieur-Sebellin M</searchLink>; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Amiel+J%22">Amiel J</searchLink>; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pingault+V%22">Pingault V</searchLink>; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Fatus-Fauconnier+C%22">Fatus-Fauconnier C</searchLink>; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Friend+K%22">Friend K</searchLink>; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Halligan+RK%22">Halligan RK</searchLink>; Metabolic Clinic, and.<br /><searchLink fieldCode="AU" term="%22Biswas+S%22">Biswas S</searchLink>; Metabolic Clinic, and.<br /><searchLink fieldCode="AU" term="%22Rosser+J%22">Rosser J</searchLink>; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Shoubridge+C%22">Shoubridge C</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+M%22">Corbett M</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+C%22">Barnett C</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Leppig+K%22">Leppig K</searchLink>; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Slavotinek+A%22">Slavotinek A</searchLink>; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BB%22">de Vries BB</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Slegtenhorst+MA%22">van Slegtenhorst MA</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brooks+AS%22">Brooks AS</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.<br /><searchLink fieldCode="AU" term="%22Rambaud+T%22">Rambaud T</searchLink>; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Akizu+N%22">Akizu N</searchLink>; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Song+Y%22">Song Y</searchLink>; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Hakonarson+H%22">Hakonarson H</searchLink>; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
– Name: TitleSource
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2024 Jan 02; Vol. 134 (1). <i>Date of Electronic Publication: </i>2024 Jan 02.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7802877 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1558-8238 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200219738%22">00219738 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Invest <i>Subsets: </i>MEDLINE
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        Value: 10.1172/JCI171235
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        Text: English
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      – TitleFull: Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
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          Dates:
            – D: 02
              M: 01
              Text: 2024 Jan 02
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1558-8238
          Numbering:
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              Value: 134
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: The Journal of clinical investigation
              Type: main
ResultId 1