Zobrazeno 1 - 10
of 133
pro vyhledávání: '"AL Bruel"'
Autor:
AL Soilly, C Robert-Viard, C Besse, AL Bruel, B Gerard, A Boland, A Piton, Y Duffourd, J Muller, C Poë, T Jouan, S El Doueiri, L Faivre, D Bacq-Daian, B Isidor, D Genevieve, S Odent, N Philip, M Doco-Fenzy, D Lacombe, ML Asensio, JF Deleuze, C Binquet, DISSEQ Investigators Group, C Thauvin-Robinet, C Lejeune
Publikováno v:
BMC Health Services Research, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help
Externí odkaz:
https://doaj.org/article/38b284f1fcab42e19d86e84e43a8a4dc
Autor:
Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milano, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences, Università degli Studi di Firenze, Firenze, Italy. angela.peron@unifi.it.; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy. angela.peron@unifi.it., D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Aldinger KA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Smith-Hicks C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Bradbury K; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK., Accogli A; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Andersen EF; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Au PYB; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy.; Dipartimento di Medicina Clinica e Sperimentale, University of Pisa, Pisa, Italy., Beleford D; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Department of Pediatrics and Physiology & Membrane Biology, University of California, Davis, CA, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Carmichael J; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Clayton-Smith J; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bamshad MJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Earl DL; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Ferreira P; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Graul-Neumann L; Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Green MJ; Experimental Histopathology Laboratory, The Francis Crick Institute, London, UK., Haffner D; Department of Pediatrics, Division of Pediatric Neurology, Nationwide Children's Hospital and Ohio State University, Columbus, OH, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Hanna S; Department of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Kristiansen BE; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Lespinasse J; HDR - Service de Génétique Médicale, Centre Hospitalier Métropole Savoie, Chambery, France., Low KJ; Clinical Genetics Service, University Hospitals Bristol and Weston NHS trust, Bristol, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Maia S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar Universidade de Coimbra, Coimbra, Portugal., Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Kalinauskiene R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Montgomery T; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK., Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Napoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA., Palumbos JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Parikh AS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Person R; GeneDx, Gaithersburg, MD, USA., Desai M; GeneDx, Gaithersburg, MD, USA., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Serey-Gaut M; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Centre de Recherche en Audiologie, Hôpital Necker, AP-HP. CUP, Paris, France., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Division of Human Genetics, Cincinnati Children's Hospital, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Suri M; Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust, Nottingham, UK., Turner C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA., Weiss K; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Roma, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Guillemot F; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. cristina.dias@kcl.ac.uk.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK. cristina.dias@kcl.ac.uk.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK. cristina.dias@kcl.ac.uk.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK. cristina.dias@kcl.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct 24. Date of Electronic Publication: 2024 Oct 24.
Autor:
Seaby EG; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Godwin A; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Meyer-Dilhet G; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Clerc V; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France., Grand X; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France.; INSERM U1052, CNRS UMR5286, Cancer Research Center of Lyon (CRCL), Université Claude Bernard Lyon 1, 69008 Lyon, France., Fletcher T; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Monteiro L; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Kerkhofs M; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, 40138, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139, Bologna, Italy., Seri M; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Olivucci G; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Grippa M; IRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy., Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Iascone M; Laboratorio di genetica Medica, Ospedale papà Giovanni XXIII, 24127 Bergamo, Italy., Bermudez M; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Goesswein S; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, 01307 Dresden, Germany., Leung ML; Departments of Pathology and Pediatrics, The Ohio State University, Columbus, OH 43210, USA., Koboldt DC; Department of Pediatrics, The Ohio State University, Columbus, OH 43210, USA., Myers C; Department of Pediatrics and Clinical Genetics, Nationwide Children's Hospital & Ohio State University, Columbus, OH 43210, USA., Arnadottir GA; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Stefansson K; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Sulem P; deCODE Genetics/Amgen, IS-101, Reykjavik, Iceland., Goldberg EM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; INSERM UMR1231 GAD, Université de Bourgogne, 21000 Dijon, France., Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; INSERM UMR1231 GAD, Université de Bourgogne, 21000 Dijon, France., Willems M; University Hospital of Montpellier, 34295 Montpellier, France., Bjornsson HT; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Hognason HB; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Thorolfsdottir ET; Department of Genetic and Molecular Medicine, Landspitali Hospital, IS-105, Reykjavik, Iceland., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Zampino G; Paediatric Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Medicine and Surgery School, Università Cattolica del S. Cuore, 00168 Rome, Italy., Onesimo R; Rare Diseases Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS 00168 Rome, Italy., Lachlan K; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 5YA, UK., Baralle D; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK., Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA., Courchet J; Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR5261, INSERM U1315, Institut NeuroMyoGène, Université Claude Bernard Lyon 1, 69008 Lyon, France., Guille M; European Xenopus Resource Centre, School of Environmental and Life Sciences, University of Portsmouth, PO1 2D, Portsmouth, UK., Bourgeois CF; Laboratoire de Biologie et Modélisation de la Cellule, Ecole Normale Supérieure de Lyon, CNRS UMR5239, INSERM U1293, Université Claude Bernard Lyon 1, 69007 Lyon, France., Ennis S; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Oct 15. Date of Electronic Publication: 2024 Oct 15.
Autor:
Ham H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Jing H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Lamborn IT; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kober MM; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Koval A; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland., Berchiche YA; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA., Anderson DE; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA., Druey KM; Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA., Mandl JN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Ferreira CR; Skeletal Genomics Unit, Metabolic Medicine Branch, DIR, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA., Freeman AF; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA., Karsak M; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Mustillo PJ; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University College of Medicine, Columbus, OH, USA., Teo J; Department of Haematology, The Children's Hospital Westmead, Sydney, New South Wales, Australia., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France., Lecoquierre F; Université de Rouen Normandie, INSERM U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, Rouen, France., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Schmid JP; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Pediatric Immunology, University of Zurich, Zurich, Switzerland., Kuhns DB; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Xu X; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait., Wagner M; Institute of Human Genetics, Technical University Munich, School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany., Terhal PA; Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Muurinen M; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Barlogis V; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, EA 3279 Research Unit, Marseille, France., Cruz P; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Danielson J; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford, UK., Loid P; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Rading S; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Keren B; Genetic Departement, Assistance Publique - Hôpitaux de Paris.Sorbonne University, Paris, France.; SeqOIA Laboratory, FMG2025, Paris, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Zarember KA; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Vill K; LMU University Hospital, Department of Pediatrics, Division of Pediatric Neurology, iSPZ Hauner MUC - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, Munich, Germany., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Olivier KN; Pulmonary Branch, Division of Intramural Research, DIR, National Heart Lung and Blood Institute (NHLBI), NIH, Bethesda, MD, USA., Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France., Faivre L; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, NSW, Australia., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France., Chou J; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States., Tusseau M; Genetics Department, Lyon University Hospital, Lyon, France.; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Moutsopoulos NM; Oral Immunity and Infection Section, DIR, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA., Matthews HF; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Taft RJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.; Illumina, San Diego, CA, USA., Soldatos A; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA., Masle-Farquhar E; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia., Pittaluga S; Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA., Brink R; St. Vincent's Clinical School, UNSW, Sydney, NSW, Australia.; B Cell Biology Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia., Fink DL; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kong HH; Cutaneous Microbiome and Inflammation Section, Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA., Kabat J; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA., Kim WS; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Meguro K; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA., Gu J; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA., Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK., Slack M; Division of Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center and Golisano Children's Hospital, Rochester, NY, USA., Trivellin G; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA., Mazel B; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France., Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland., Li S; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA., Watts VJ; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA., Stratakis CA; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA., Rodriguez-Quevedo MF; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Bruel AL; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lipsanen-Nyman M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Saultier P; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, INSERM, National Research Institute for Agriculture, Food and Environment (INRAe), Cardiovascular and Nutrition Research Center (C2VN), Marseille, France., Jain R; Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Lehalle D; AP-HP Sorbonne Université, UF de Génétique Clinique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau, Paris, France., Torres D; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes Université, Nantes, France., Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Duffourd Y; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Similuk M; Centralized Sequencing Program, DIR, NIAID, NIH, Bethesda, MD, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Blanc P; SeqOIA Laboratory, FMG2025, Paris, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Jin T; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA., Geha RS; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France., Makitie OM; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Edery P; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, Australia., Germain RN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Goodnow CC; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Cellular Genomics Futures Institute, Sydney, NSW, Australia., Sakmar TP; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Stockholm, Sweden., Billadeau DD; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France., Katanaev VL; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Institute of Life Sciences and Biomedicine, Far Eastern Federal University, Vladivostok, Russia., Zhang Y; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA., Lenardo MJ; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA., Su HC; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Science (New York, N.Y.) [Science] 2024 Sep 20; Vol. 385 (6715), pp. eadd8947. Date of Electronic Publication: 2024 Sep 20.
Autor:
Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt., Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt., Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France., Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Firoozfar Z; Palindrome, Isfahan, Iran., Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey., Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France., Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA., Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France., Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France., Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands., Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States., Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA., Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France., Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco., Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco., Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152., Levchenko O; Research Centre for Medical Genetics, Moscow, Russia., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran., Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India., Tawde S; Department of Human Genetics, The University of Chicago, Illinois., Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil., Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK., Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt., Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil., Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Idkaidak S; Al-Quds University, Jerusalem, Palestine., Alqarajeh F; PRCS hospital, Hebron, Palestine., Atawneh O; PRCS hospital, Hebron, Palestine., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil., Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA., Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea., Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA., Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 10, pp. 101251. Date of Electronic Publication: 2024 Sep 10.
Autor:
Maraval J; Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France., Delahaye-Duriez A; 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.; Inserm UMR1141 NeuroDiderot, Université Paris Cité, Paris, France., Racine C; Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Denommé-Pichon AS; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Gaudillat L; Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France., Thauvin-Robinet C; Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Lucain M; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Satre V; Laboratoire de Biologie Médicale Multi-Sites AURAGEN, CHU Grenoble, Grenoble, France.; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR2309, Université Grenoble Alpes, Genetic Epigenetic and Therapies of Infertility Team, Grenoble, France.; GCS AURAGEN, Lyon, France., Coutton C; Laboratoire de Biologie Médicale Multi-Sites AURAGEN, CHU Grenoble, Grenoble, France.; Laboratoire de Génétique Chromosomique, CHU Grenoble Alpes, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR2309, Université Grenoble Alpes, Genetic Epigenetic and Therapies of Infertility Team, Grenoble, France.; GCS AURAGEN, Lyon, France., de Sainte Agathe JM; Hôpital la Pitié-Salpêtrière, Département de Génétique Médicale, APHP Sorbonne Université, Paris, France., Keren B; Hôpital la Pitié-Salpêtrière, Département de Génétique Médicale, APHP Sorbonne Université, Paris, France., Faivre L; Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne-Franche Comté, Dijon, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 05, pp. e63862. Date of Electronic Publication: 2024 Sep 05.
Autor:
Hamamie-Chaar A; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Renaud M; Department of Clinical Genetics, CHRU Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Gençpinar P; Department of Pediatric Neurology, İzmir Katip Çelebi University, Izmir, Turkey., Bruel AL; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Philippe C; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Maraval J; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Racine C; Department of Clinical Genetics, Dijon University Hospital, Dijon, France., Hadouiri N; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Lambert L; Department of Clinical Genetics, CHRU Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Schmitt E; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Banneau G; Department of Clinical Genetics, CHU Toulouse, Toulouse, France.; Pitié-Salpêtrière, Department of Genetics, Sorbonne Université, AP-HP, Paris, France., Hocquel A; Department of Clinical Genetics, CHRU Nancy, Nancy, France., Thauvin-Robinet C; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Faivre L; Department of Clinical Genetics, Dijon University Hospital, Dijon, France.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France., Thomas Q; Department of Clinical Genetics, Dijon University Hospital, Dijon, France. quentin.thomas@chu-dijon.fr.; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, Dijon, France. quentin.thomas@chu-dijon.fr.
Publikováno v:
Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 6343-6348. Date of Electronic Publication: 2024 Jul 13.
Autor:
Viora-Dupont E; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. eleonore.viora-dupont@chu-dijon.fr.; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France. eleonore.viora-dupont@chu-dijon.fr., Robert F; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Clinical Psychology Lab., Psychopathology, Psychoanalysis (EA4056, ED 261), University of Paris, Sorbonne Paris City, Paris, France., Chassagne A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of Sociology and Anthropology (LaSA, EA3189), University of Burgundy-Franche-Comté, Besançon, France., Pélissier A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Staraci S; Genetics Department, Reference Center for Hereditary Cardiac Disorders, GH APHP, Paris, France., Sanlaville D; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Edery P; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Lesca G; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Putoux A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Pons L; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Cadenes A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Baurand A; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Sawka C; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Bertolone G; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Spetchian M; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Yousfi M; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Salvi D; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Gautier E; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Vitobello A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Denommé-Pichon AS; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Bruel AL; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Tran Mau-Them F; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Faudet A; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Keren B; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Labalme A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Chatron N; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Abel C; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Dupuis-Girod S; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Poisson A; Reference Center for Rare Disorders with psychiatric expression C.H. Le Vinatier, Bron, France.; Equipe de recherche AESIO santé, unité de Sant Etienne, Clinique médico chirurgicale mutualiste, Saint Etienne, France., Buratti J; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Mignot C; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Afenjar A; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Whalen S; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Charles P; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Heide S; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Mouthon L; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Moutton S; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Sorlin A; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Nambot S; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Briffaut AS; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Asensio ML; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Philippe C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Thauvin-Robinet C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Genetics Department, Reference Center for Intellectual Disabilities, University Hospital, Dijon, France., Héron D; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Rossi M; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Meunier-Bellard N; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Gargiulo M; Clinical Psychology Lab., Psychopathology, Psychoanalysis (EA4056, ED 261), University of Paris, Sorbonne Paris City, Paris, France.; Institute of myology, GH APHP, Paris, France., Peyron C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Binquet C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Faivre L; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. laurence.faivre@chu-dijon.fr.; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France. laurence.faivre@chu-dijon.fr.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1166-1183. Date of Electronic Publication: 2024 May 27.
Autor:
Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Delanne J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Centre de référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Racine C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Bruel AL; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Duffourd Y; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Lopergolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foudation, Pisa, Italy., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foudation, Pisa, Italy., Marchi V; Department of Developmental Neuroscience, Stella Maris Scientific Institute, IRCCS Fondazione Stella Maris Foundation, Pisa, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Valentino F; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Papa FT; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Fallerini C; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy., Mari F; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, Siena, Italy., Munnich A; Service de Génétique Médicale et Clinique, Hôpital Necker Enfants Malades, Paris, France., Niclass T; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Le Guyader G; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Centre de référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Philippe C; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, Unité Fonctionnelle Innovation en diagnostic génomique, Unité fonctionnelle innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Sep; Vol. 195 (6), pp. e32970. Date of Electronic Publication: 2024 Mar 08.
Autor:
Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Vera G; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India., Schnur RE; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA., Juven A; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India., Gandhi A; FRIGE's Institute of Human Genetics, Ahmedabad, India., Shapiro FL; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA., Bruel AL; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Marguet F; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Begtrup A; GeneDx, Gaithersburg, Maryland, USA., Monaghan KG; GeneDx, Gaithersburg, Maryland, USA., Safraou H; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Brasseur-Daudruy M; Radiologie pédiatrique, CHU de Rouen, Rouen, France., Mau-Them FT; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France., Duffourd Y; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Faivre L; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Thauvin-Robinet C; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France., Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Philippe C; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 757-763. Date of Electronic Publication: 2024 Aug 21.