Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
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| Title: | Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. |
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| Authors: | Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Laboratoire SeqOIA, Paris, France. caroline.nava@aphp.fr., Cogne B; Laboratoire SeqOIA, Paris, France.; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Santini A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245, Rouen, France., Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Lecoquierre F; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Besnard T; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Heide S; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Baer S; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France., Jakhar A; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Keren B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France., Faudet A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Forlani S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France., Faoucher M; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; GCS AURAGEN, Lyon, France., Uguen K; Laboratoire SeqOIA, Paris, France.; Univ. Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Afenjar A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, UF de Génétique Clinique, Hôpital Trousseau, Paris, France., Alessandri JL; Service de Génétique, CHU de La Réunion, Saint-Pierre, France., Andres S; Medicover München Ost MVZ Humangenetik, Munich, Germany., Angelini C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Aral B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France., Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France., Attie-Bitach T; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Aubert Mucca M; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Banneau G; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Barcia G; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France., Beneteau C; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Benkerdou F; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Bernard V; GCS AURAGEN, Lyon, France., Bézieau S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bonneau D; Department of Genetics, Angers University Hospital, Angers, France.; UMR CNRS 6214-INSERM 1083, Angers, France., Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France., Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Boute O; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Brischoux-Boucher E; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Bryen SJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Buratti J; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Busa T; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France., Caliebe A; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany., Capri Y; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Cassinari K; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Caumes R; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Cenni C; Service de Génétique Moléculaire, Chromosomique et Clinique, CHU de Nîmes, Nîmes, France., Chambon P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Charles P; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Conrad S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Cospain A; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France., Coursimault J; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Courtin T; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Coutton C; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France., Creveaux I; GCS AURAGEN, Lyon, France.; CHU Clermont-Ferrand Department of Medical Biochemistry and Molecular Biology, Clermont-Ferrand, France., D'Gama AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Dauriat B; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France., de Sainte Agathe JM; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France., Del Gobbo G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Delahaye-Duriez A; Laboratoire SeqOIA, Paris, France.; Hôpitaux Universitaires de Paris Seine-Saint-Denis-APHP, UF de médecine génomique et génétique Clinique, Hôpital Jean Verdier, Bondy, France.; UFR Santé Médecine et Biologie Humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France., Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France., Denommé-Pichon AS; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Dieux-Coeslier A; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Do Souto Ferreira L; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Doco-Fenzy M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; GCS AURAGEN, Lyon, France.; Service de Génétique, CHU de Reims, Reims, France., Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Duboc V; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France., Dubourg C; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France., Duffourd Y; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France., Elmaleh M; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU DREAM, Hôpital Robert Debré, Service de Radiologie Pédiatrique, Paris, France., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France., Fennelly S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Fischer H; Sozialpädiatrisches Zentrum Konstanz, Konstanz, Germany., Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Galludec Vaillant C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Ganne B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique, CHU de Montpellier, Montpellier, France., Ghoumid J; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Gokce-Samar Z; Department of Epilepsy, Sleep and Pediatric Neurophysiology, Hospices Civils de Lyon, Lyon, France.; University of Lyon, Lyon, France., Goldenberg A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Gonfreville Robert R; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Gorokhova S; GCS AURAGEN, Lyon, France.; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Goujon L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Granier V; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Gras M; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Greally JM; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA., Greiten B; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany., Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain and Neuropsychiatry iBraiN U1253, Tours, France., Guerrot AM; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Guha S; Molecular Diagnostics, New York Genome Center, New York City, NY, USA., Guimier A; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hadj Abdallah H; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Halleb Y; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France., Harbuz R; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France., Harris M; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Héron B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France., Hitz MP; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Jadas V; Service de Pédiatrie, CHMS Chambéry, CAMSP Chambéry, Chambéry, France., Januel L; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France., Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Jobanputra V; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Department of Pathology, Columbia University Irving Medical Center, New York City, NY, USA., Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France., Jornea L; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France., Jost C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France., Julia S; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Essen Center for Rare Diseases (EZSE), Essen, Germany., Kaschta D; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Ketteler P; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Pediatrics III, University Hospital Essen, Essen, Germany., Khadija B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.; Cytogenetics, Molecular Genetics and Human Reproductive Biology Laboratory, Service of Genetics CHU Farhat Hached Sousse, Sousse, Tunisia., Kilpert F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lackmy M; Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, Guadeloupe, France., Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Lambert L; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France., Lamont R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Laugel V; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Universitat de Barcelona (UB), Barcelona, Spain., Lauzon JL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lebreton L; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Lebrun M; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France., Legendre M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Leguern E; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Lehalle D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Lejeune E; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Lesca G; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France., Lesieur-Sebellin M; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Levy J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Linglart A; Department of Endocrinology and Diabetology for Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France.; Paris Saclay University, Paris, France., Lyonnet S; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia., Mach C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Mandel JL; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France., Mansour-Hendili L; Laboratoire SeqOIA, Paris, France., Marcadier J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Marin V; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Margot H; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France., Marquet V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France., May A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Mayr JA; University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Meridda C; Service de Génétique, CHU Caen, Caen, France., Michaud V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France., Michot C; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Nadeau G; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, France., Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Nguyen L; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Nizon M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Nowak F; Health Technologies Institute, Inserm, Paris, France., Odent S; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Olin V; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France., Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Pasquier L; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Passemard S; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU INOV-RDB, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France., Pauly M; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Patat O; Service de Génétique Médicale, CHU Purpan, Toulouse, France., Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France., Perrin-Sabourin L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Philippe C; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France., Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA., Poirsier C; UF de Génétique clinique, CHU de Reims, Reims, France., Pouzet A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Prouteau C; Department of Genetics, Angers University Hospital, Angers, France., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., Racine C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France., Rama M; GCS AURAGEN, Lyon, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Ramond F; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France., Ranguin K; Unité de Génétique-Centre Hospitalier Universitaire de Guadeloupe, Guadeloupe, France., Raway M; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany., Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France., Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium., Richard AC; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Riera-Navarro L; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France., Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Rodriguez D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Reference Center for Rare Diseases and Intellectual Deficiencies of Rare Causes, Paris, France., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Rondeau S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Roser-Unruh A; LMU Klinikum-München, Munich, Germany., Rougeot Jung C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Lyon, France., Safraou H; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Satre V; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France., Saugier-Veber P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Sauvestre C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Schanze I; Institute of Human Genetics, Magdeburg, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; Department of Pediatrics, AMEOS Klinikum St. Clemens Oberhausen, Oberhausen, Germany., Schlüter Martin A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain., Schluth-Bolard C; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France., Schuhmann S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Sebastin M; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA., Sigaudy S; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France., Spielmann M; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany., Spodenkiewicz M; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France., St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia., Steffann J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Stoeva R; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France., Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tarnopolsky MA; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Todosi C; Centre de Référence des Epilepsies Rares (CRéER), CHRU Nancy, Vandoeuvre les Nancy, France.; Service de Médecine Infantile, CHRU, Vandoeuvre les Nancy, France., Toutain A; Génétique Médicale, Centre Hospitalier Universitaire; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Tran Mau-Them F; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France., Unterlauft A; Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany., Van-Gils J; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France., Vanlerberghe C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Vasileiou G; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany., Vera G; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Verdel A; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France., Verloes A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Vial Y; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France., Vignal C; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France., Vincent M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Vincent-Delorme C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Vincent-Devulder A; Service de Génétique, CHU Caen, Caen, France., Vitobello A; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Weber S; Service de Génétique, CHU Caen, Caen, France., Willems M; Service de Génétique Médicale, CHU de Montpellier, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France., Zaafrane-Khachnaoui K; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Zeltner L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany., Ziegler A; GCS AURAGEN, Lyon, France.; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France., Galej WP; European Molecular Biology Laboratory, EMBL Grenoble, Grenoble, France., Dollfus H; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France., Thauvin C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Marijon P; Laboratoire SeqOIA, Paris, France., Lermine A; Laboratoire SeqOIA, Paris, France., Malan V; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Rio M; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Isidor B; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France., Drunat S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France., Smol T; Laboratoire SeqOIA, Paris, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Chatron N; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France., Piton A; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Nicolas G; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Wagner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Héron D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Mignot C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Blanc P; Laboratoire SeqOIA, Paris, France., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Charbonnier C; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France., Charenton C; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France., Thevenon J; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France., Depienne C; Laboratoire SeqOIA, Paris, France. christel.depienne@uk-essen.de.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uk-essen.de. |
| Source: | Nature genetics [Nat Genet] 2025 Jun; Vol. 57 (6), pp. 1374-1388. Date of Electronic Publication: 2025 May 16. |
| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40379786 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Laboratoire SeqOIA, Paris, France. caroline.nava@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Laboratoire SeqOIA, Paris, France.; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Santini+A%22">Santini A</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Leitão+E%22">Leitão E</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baer+S%22">Baer S</searchLink>; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Jakhar+A%22">Jakhar A</searchLink>; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Faudet+A%22">Faudet A</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Forlani+S%22">Forlani S</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Faoucher+M%22">Faoucher M</searchLink>; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Uguen+K%22">Uguen K</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.<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="%22Afenjar+A%22">Afenjar A</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, UF de Génétique Clinique, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Alessandri+JL%22">Alessandri JL</searchLink>; Service de Génétique, CHU de La Réunion, Saint-Pierre, France.<br /><searchLink fieldCode="AU" term="%22Andres+S%22">Andres S</searchLink>; Medicover München Ost MVZ Humangenetik, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Angelini+C%22">Angelini C</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Aral+B%22">Aral B</searchLink>; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Arveiler+B%22">Arveiler B</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Attie-Bitach+T%22">Attie-Bitach T</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Aubert+Mucca+M%22">Aubert Mucca M</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Banneau+G%22">Banneau G</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Barcia+G%22">Barcia G</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baulac+S%22">Baulac S</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Benkerdou+F%22">Benkerdou F</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bernard+V%22">Bernard V</searchLink>; GCS AURAGEN, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Bézieau+S%22">Bézieau S</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Department of Genetics, Angers University Hospital, Angers, France.; UMR CNRS 6214-INSERM 1083, Angers, France.<br /><searchLink fieldCode="AU" term="%22Bonnet-Dupeyron+MN%22">Bonnet-Dupeyron MN</searchLink>; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.<br /><searchLink fieldCode="AU" term="%22Boussion+S%22">Boussion S</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Boute+O%22">Boute O</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Brischoux-Boucher+E%22">Brischoux-Boucher E</searchLink>; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Bryen+SJ%22">Bryen SJ</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Busa+T%22">Busa T</searchLink>; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Caliebe+A%22">Caliebe A</searchLink>; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Capri+Y%22">Capri Y</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cassinari+K%22">Cassinari K</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Caumes+R%22">Caumes R</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Cenni+C%22">Cenni C</searchLink>; Service de Génétique Moléculaire, Chromosomique et Clinique, CHU de Nîmes, Nîmes, France.<br /><searchLink fieldCode="AU" term="%22Chambon+P%22">Chambon P</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Charles+P%22">Charles P</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Colson+C%22">Colson C</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Conrad+S%22">Conrad S</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cospain+A%22">Cospain A</searchLink>; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Couse+M%22">Couse M</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Coutton+C%22">Coutton C</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Creveaux+I%22">Creveaux I</searchLink>; GCS AURAGEN, Lyon, France.; CHU Clermont-Ferrand Department of Medical Biochemistry and Molecular Biology, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22D'Gama+AM%22">D'Gama AM</searchLink>; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dauriat+B%22">Dauriat B</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Del+Gobbo+G%22">Del Gobbo G</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Delahaye-Duriez+A%22">Delahaye-Duriez A</searchLink>; Laboratoire SeqOIA, Paris, France.; Hôpitaux Universitaires de Paris Seine-Saint-Denis-APHP, UF de médecine génomique et génétique Clinique, Hôpital Jean Verdier, Bondy, France.; UFR Santé Médecine et Biologie Humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Dieux-Coeslier+A%22">Dieux-Coeslier A</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Do+Souto+Ferreira+L%22">Do Souto Ferreira L</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Doco-Fenzy+M%22">Doco-Fenzy M</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; GCS AURAGEN, Lyon, France.; Service de Génétique, CHU de Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Drukewitz+S%22">Drukewitz S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Duboc+V%22">Duboc V</searchLink>; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Duffourd+Y%22">Duffourd Y</searchLink>; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Dyment+D%22">Dyment D</searchLink>; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22El+Chehadeh+S%22">El Chehadeh S</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Elmaleh+M%22">Elmaleh M</searchLink>; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU DREAM, Hôpital Robert Debré, Service de Radiologie Pédiatrique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Fennelly+S%22">Fennelly S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Fischer+H%22">Fischer H</searchLink>; Sozialpädiatrisches Zentrum Konstanz, Konstanz, Germany.<br /><searchLink fieldCode="AU" term="%22Fradin+M%22">Fradin M</searchLink>; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Galludec+Vaillant+C%22">Galludec Vaillant C</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ganne+B%22">Ganne B</searchLink>; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique, CHU de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Ghoumid+J%22">Ghoumid J</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Goel+H%22">Goel H</searchLink>; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Gokce-Samar+Z%22">Gokce-Samar Z</searchLink>; Department of Epilepsy, Sleep and Pediatric Neurophysiology, Hospices Civils de Lyon, Lyon, France.; University of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gonfreville+Robert+R%22">Gonfreville Robert R</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; GCS AURAGEN, Lyon, France.; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Goujon+L%22">Goujon L</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Granier+V%22">Granier V</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Gras+M%22">Gras M</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Greally+JM%22">Greally JM</searchLink>; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Greiten+B%22">Greiten B</searchLink>; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Gueguen+P%22">Gueguen P</searchLink>; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain and Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Guerrot+AM%22">Guerrot AM</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Guha+S%22">Guha S</searchLink>; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Guimier+A%22">Guimier A</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hadj+Abdallah+H%22">Hadj Abdallah H</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Halleb+Y%22">Halleb Y</searchLink>; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Harbuz+R%22">Harbuz R</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Harris+M%22">Harris M</searchLink>; Murdoch Children's Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Hentschel+J%22">Hentschel J</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Héron+B%22">Héron B</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hitz+MP%22">Hitz MP</searchLink>; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Jadas+V%22">Jadas V</searchLink>; Service de Pédiatrie, CHMS Chambéry, CAMSP Chambéry, Chambéry, France.<br /><searchLink fieldCode="AU" term="%22Januel+L%22">Januel L</searchLink>; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Jean-Marçais+N%22">Jean-Marçais N</searchLink>; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Jobanputra+V%22">Jobanputra V</searchLink>; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Department of Pathology, Columbia University Irving Medical Center, New York City, NY, USA.<br /><searchLink fieldCode="AU" term="%22Jobic+F%22">Jobic F</searchLink>; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Jornea+L%22">Jornea L</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Jost+C%22">Jost C</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Julia+S%22">Julia S</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Kaiser+FJ%22">Kaiser FJ</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Essen Center for Rare Diseases (EZSE), Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kaschta+D%22">Kaschta D</searchLink>; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Kaya+S%22">Kaya S</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Ketteler+P%22">Ketteler P</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Pediatrics III, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Khadija+B%22">Khadija B</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.; Cytogenetics, Molecular Genetics and Human Reproductive Biology Laboratory, Service of Genetics CHU Farhat Hached Sousse, Sousse, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kilpert+F%22">Kilpert F</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Knopp+C%22">Knopp C</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Kraft+F%22">Kraft F</searchLink>; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Lackmy+M%22">Lackmy M</searchLink>; Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, Guadeloupe, France.<br /><searchLink fieldCode="AU" term="%22Laffargue+F%22">Laffargue F</searchLink>; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Lambert+L%22">Lambert L</searchLink>; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.<br /><searchLink fieldCode="AU" term="%22Lamont+R%22">Lamont R</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Laugel+V%22">Laugel V</searchLink>; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Laurie+S%22">Laurie S</searchLink>; Centro Nacional de Análisis Genómico (CNAG), Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lauzon+JL%22">Lauzon JL</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Lebreton+L%22">Lebreton L</searchLink>; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lebrun+M%22">Lebrun M</searchLink>; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Legendre+M%22">Legendre M</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Leguern+E%22">Leguern E</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lehalle+D%22">Lehalle D</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lejeune+E%22">Lejeune E</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesieur-Sebellin+M%22">Lesieur-Sebellin M</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Linglart+A%22">Linglart A</searchLink>; Department of Endocrinology and Diabetology for Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France.; Paris Saclay University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lüthy+K%22">Lüthy K</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Ma+AS%22">Ma AS</searchLink>; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Mach+C%22">Mach C</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mandel+JL%22">Mandel JL</searchLink>; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Mansour-Hendili+L%22">Mansour-Hendili L</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Marcadier+J%22">Marcadier J</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Marin+V%22">Marin V</searchLink>; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Margot+H%22">Margot H</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Marquet+V%22">Marquet V</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.<br /><searchLink fieldCode="AU" term="%22May+A%22">May A</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Meridda+C%22">Meridda C</searchLink>; Service de Génétique, CHU Caen, Caen, France.<br /><searchLink fieldCode="AU" term="%22Michaud+V%22">Michaud V</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Michot+C%22">Michot C</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nadeau+G%22">Nadeau G</searchLink>; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, France.<br /><searchLink fieldCode="AU" term="%22Naudion+S%22">Naudion S</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Nguyen+L%22">Nguyen L</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Nowak+F%22">Nowak F</searchLink>; Health Technologies Institute, Inserm, Paris, France.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Olin+V%22">Olin V</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Osei-Owusu+IA%22">Osei-Owusu IA</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<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="%22Õunap+K%22">Õunap K</searchLink>; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Passemard+S%22">Passemard S</searchLink>; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU INOV-RDB, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pauly+M%22">Pauly M</searchLink>; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Patat+O%22">Patat O</searchLink>; Service de Génétique Médicale, CHU Purpan, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Pensec+M%22">Pensec M</searchLink>; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Perrin-Sabourin+L%22">Perrin-Sabourin L</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.<br /><searchLink fieldCode="AU" term="%22Planes+M%22">Planes M</searchLink>; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; UF de Génétique clinique, CHU de Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Pouzet+A%22">Pouzet A</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Prince+B%22">Prince B</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Prouteau+C%22">Prouteau C</searchLink>; Department of Genetics, Angers University Hospital, Angers, France.<br /><searchLink fieldCode="AU" term="%22Pujol+A%22">Pujol A</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Racine+C%22">Racine C</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Rama+M%22">Rama M</searchLink>; GCS AURAGEN, Lyon, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ramond+F%22">Ramond F</searchLink>; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.<br /><searchLink fieldCode="AU" term="%22Ranguin+K%22">Ranguin K</searchLink>; Unité de Génétique-Centre Hospitalier Universitaire de Guadeloupe, Guadeloupe, France.<br /><searchLink fieldCode="AU" term="%22Raway+M%22">Raway M</searchLink>; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Reis+A%22">Reis A</searchLink>; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Renaud+M%22">Renaud M</searchLink>; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.<br /><searchLink fieldCode="AU" term="%22Revencu+N%22">Revencu N</searchLink>; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Richard+AC%22">Richard AC</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Riera-Navarro+L%22">Riera-Navarro L</searchLink>; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.<br /><searchLink fieldCode="AU" term="%22Rius+R%22">Rius R</searchLink>; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Rodriguez+D%22">Rodriguez D</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Reference Center for Rare Diseases and Intellectual Deficiencies of Rare Causes, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Palmero+A%22">Rodriguez-Palmero A</searchLink>; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rondeau+S%22">Rondeau S</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Roser-Unruh+A%22">Roser-Unruh A</searchLink>; LMU Klinikum-München, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Rougeot+Jung+C%22">Rougeot Jung C</searchLink>; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Satre+V%22">Satre V</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Sauvestre+C%22">Sauvestre C</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Schaefer+E%22">Schaefer E</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Shao+W%22">Shao W</searchLink>; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Schanze+I%22">Schanze I</searchLink>; Institute of Human Genetics, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schlump+JU%22">Schlump JU</searchLink>; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; Department of Pediatrics, AMEOS Klinikum St. Clemens Oberhausen, Oberhausen, Germany.<br /><searchLink fieldCode="AU" term="%22Schlüter+Martin+A%22">Schlüter Martin A</searchLink>; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Schluth-Bolard+C%22">Schluth-Bolard C</searchLink>; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Schuhmann+S%22">Schuhmann S</searchLink>; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Schröder+C%22">Schröder C</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Sebastin+M%22">Sebastin M</searchLink>; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Sigaudy+S%22">Sigaudy S</searchLink>; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Spielmann+M%22">Spielmann M</searchLink>; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.<br /><searchLink fieldCode="AU" term="%22Spodenkiewicz+M%22">Spodenkiewicz M</searchLink>; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France.<br /><searchLink fieldCode="AU" term="%22St+Clair+L%22">St Clair L</searchLink>; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Steffann+J%22">Steffann J</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stoeva+R%22">Stoeva R</searchLink>; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.<br /><searchLink fieldCode="AU" term="%22Surowy+H%22">Surowy H</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Tarnopolsky+MA%22">Tarnopolsky MA</searchLink>; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Todosi+C%22">Todosi C</searchLink>; Centre de Référence des Epilepsies Rares (CRéER), CHRU Nancy, Vandoeuvre les Nancy, France.; Service de Médecine Infantile, CHRU, Vandoeuvre les Nancy, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Génétique Médicale, Centre Hospitalier Universitaire; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Tran+Mau-Them+F%22">Tran Mau-Them F</searchLink>; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Unterlauft+A%22">Unterlauft A</searchLink>; Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Van-Gils+J%22">Van-Gils J</searchLink>; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Vanlerberghe+C%22">Vanlerberghe C</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Vasileiou+G%22">Vasileiou G</searchLink>; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Vera+G%22">Vera G</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Verdel+A%22">Verdel A</searchLink>; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vial+Y%22">Vial Y</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vignal+C%22">Vignal C</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Vincent-Delorme+C%22">Vincent-Delorme C</searchLink>; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Vincent-Devulder+A%22">Vincent-Devulder A</searchLink>; Service de Génétique, CHU Caen, Caen, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Weber+S%22">Weber S</searchLink>; Service de Génétique, CHU Caen, Caen, France.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Service de Génétique Médicale, CHU de Montpellier, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Zaafrane-Khachnaoui+K%22">Zaafrane-Khachnaoui K</searchLink>; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.<br /><searchLink fieldCode="AU" term="%22Zacher+P%22">Zacher P</searchLink>; Epilepsy Center Kleinwachau, Radeberg, Germany.<br /><searchLink fieldCode="AU" term="%22Zeltner+L%22">Zeltner L</searchLink>; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.<br /><searchLink fieldCode="AU" term="%22Galej+WP%22">Galej WP</searchLink>; European Molecular Biology Laboratory, EMBL Grenoble, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Dollfus+H%22">Dollfus H</searchLink>; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Thauvin+C%22">Thauvin C</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.<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.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Marijon+P%22">Marijon P</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lermine+A%22">Lermine A</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Malan+V%22">Malan V</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rio+M%22">Rio M</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.<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="%22Drunat+S%22">Drunat S</searchLink>; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Wagner+M%22">Wagner M</searchLink>; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, 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="%22Héron+D%22">Héron D</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.<br /><searchLink fieldCode="AU" term="%22Blanc+P%22">Blanc P</searchLink>; Laboratoire SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Charbonnier+C%22">Charbonnier C</searchLink>; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Charenton+C%22">Charenton C</searchLink>; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Thevenon+J%22">Thevenon J</searchLink>; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; Laboratoire SeqOIA, Paris, France. christel.depienne@uk-essen.de.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uk-essen.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2025 Jun; Vol. 57 (6), pp. 1374-1388. <i>Date of Electronic Publication: </i>2025 May 16. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src 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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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41588-025-02184-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1374 Titles: – TitleFull: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. 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