Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Mazel B"'
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:
Billes A; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France.; CHU Amiens Picardie, Laboratoire de Génétique Constitutionnelle, Amiens, France., Pujalte M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Jedraszak G; CHU Amiens Picardie, Laboratoire de Génétique Constitutionnelle, Amiens, France.; CHU Amiens Picardie, Département de génétique, UR4666 HEMATIM, CURS, Université Picardie Jules Verne, Amiens, France., Amsallem D; Service de Neuropédiatrie, CHU de Besançon, Besançon, France., Boudry-Labis E; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Boute O; Génétique Clinique, Centre Hospitalier Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France., Bouquillon S; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Brischoux-Boucher E; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Callier P; Inserm UMR 1231 GAD Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle Innovation diagnostique dans les maladies rares, laboratoire de génétique chromosomique et moléculaire, Plateau Technique de Biologie, CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, La Tronche, France.; INSERM 1209, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Université Grenoble Alpes, Grenoble, France., Denizet AA; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Dieterich K; Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Medical Genetics, Grenoble Institute of Neurosciences, Grenoble, France.; CHU Grenoble, UM Génétique Chromosomique, Grenoble, France., Kuentz P; Oncobiologie Génétique Bioinformatique, PCBio, CHU de Besançon, Besançon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', FHUTRANSLAD, Dijon, France., Lespinasse J; Centre Hospitalier de Chambéry, Service de Cytogénétique, Chambéry, France., Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France., Morin G; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France., Amram F; CHU Amiens Picardie, Service de Génétique Clinique, Amiens, France., Pennamen P; CHU Bordeaux, Laboratoire de Génétique Biologique, Bordeaux, France., Rio M; Université Paris Cité, Institut Imagine, Inserm U1163, Paris, France.; Service de Médecine Génomique des maladies rares, AP-HP, Centre Hôpital Necker-Enfants Malades, Paris, France., Piard J; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France., Putoux A; Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Bron, France.; Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., Rama M; Institut de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Roze-Guillaumey V; Oncobiologie Génétique Bioinformatique, PCBio, CHU de Besançon, Besançon, France., Schluth-Bolard C; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France.; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Till M; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Trouvé C; Centre de Génétique Humaine - CHU de Besançon, Université de Bourgogne-Franche-Comté, Besançon, France., Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble-Alpes, Grenoble, France., Rooryck C; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), U 1211 INSERM, Bordeaux, France., Sanlaville D; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Service de Génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 234-246. Date of Electronic Publication: 2024 Apr 01.
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:
Mazel B; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France., Bertolone G; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Baurand A; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Cosset E; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Sawka C; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Robert M; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Gautier E; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Lançon A; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Réda M; Département d'Oncologie Médicale, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; Plateforme de Transfert en Biologie Cancérologique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Favier L; Département d'Oncologie Médicale, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; Plateforme de Transfert en Biologie Cancérologique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Dérangère V; Plateforme de Transfert en Biologie Cancérologique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Richard C; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France., Binquet C; INSERM, CIC1432, Module Epidémiologie Clinique, Dijon, France; Centre Hospitalier Universitaire Dijon-Bourgogne, Centre d'Investigation Clinique, module Epidémiologie clinique/essais cliniques, Dijon, France., Boidot R; Unité de Biologie Moléculaire, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; Institut de Chimie Moléculaire de l'Université de Bourgogne, UMR CNRS 6302, Dijon, France., Goussot V; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France.; Unité de Biologie Moléculaire, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Albuisson J; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France.; Unité de Biologie Moléculaire, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France., Ghiringhelli F; Département d'Oncologie Médicale, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; Plateforme de Transfert en Biologie Cancérologique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France., Faivre L; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France., Nambot S; Centre de Génétique, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Unité d'Oncogénétique, Centre de Lutte Contre le Cancer Georges François Leclerc-UNICANCER, Dijon, France.; INSERM UMR 1231 GIMI, Genomic and Immunotherapy Medical Institute, Université Bourgogne Franche-Comté, Dijon, France.
Publikováno v:
Cancer medicine [Cancer Med] 2023 Sep; Vol. 12 (18), pp. 18786-18796. Date of Electronic Publication: 2023 Sep 11.
Autor:
Marsili L; Clinique de génétique Guy Fontaine, CHU Lille, 59000, Lille, France.; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Lint FHM; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Russo F; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., van Spaendonck-Zwarts KY; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Ader F; Service de Biochimie Métabolique, Hôpital Universitaire Pitié Salpêtrière, APHP-Sorbonne Université-DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et cellulaire, 75651, Paris, France.; INSERM UMRS1166 Equipe 1, ICAN institute (institut de cardiométabolisme et nutrition), 91 Bd de l'hôpital, 75013, Paris, France.; UFR de Pharmacie, Université Paris Cité, 4 av de l'observatoire, 75006, Paris, France., Bichon ML; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Faivre L; Centre de Génétique, FHU TRANSLAD-CHU Dijon Bourgogne, Dijon, France., Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Lekanne Deprez RH; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Cox MGPJ; Department of Cardiology, University Medical Centre Groningen, Groningen, The Netherlands., Wilde AAM; Department of Cardiology, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Mazel B; Centre de Génétique, FHU TRANSLAD-CHU Dijon Bourgogne, Dijon, France., Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Millat G; Unité Fonctionnelle de Cardiogénétique Moléculaire, LBMMS, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, 69677, Bron, France.; Université de Lyon 1, Lyon, France., Nguyen K, Post JG; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Richard P; Service de Biochimie Métabolique, Hôpital Universitaire Pitié Salpêtrière, APHP-Sorbonne Université-DMU BioGem-Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et cellulaire, 75651, Paris, France.; INSERM UMRS1166 Equipe 1, ICAN institute (institut de cardiométabolisme et nutrition), 91 Bd de l'hôpital, 75013, Paris, France., van de Beek I; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Vermeer AMC; Department of Human Genetics, Amsterdam University Medical Centres, location Academic Medical Centre/University of Amsterdam, Amsterdam, The Netherlands., Boven L; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., Jongbloed JDH; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., van Tintelen JP; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. j.p.vantintelen-3@umcutrecht.nl.
Publikováno v:
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2023 Aug; Vol. 31 (7-8), pp. 300-307. Date of Electronic Publication: 2023 Jul 24.
Autor:
Aerden M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. mio.aerden@uzleuven.be., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Delanne J; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gérard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mazel B; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Pinson L; Service de génétique - Centre de Référence Anomalies du Développement CLAD Sud Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Prouteau C; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Putoux A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est, Hospices Civils de Lyon, Lyon, France., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Viora-Dupont É; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Isidor B; Service de Genetique Medicale, CHU de Nantes & Inserm, CNRS, Universite de Nantes, l'institut du thorax, Nantes, France., Francannet C; Service de Genetique Medicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Maillard PY; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Julia S; Service de Génétique Clinique, CHU Toulouse, Toulouse, France., Philippe A; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Schaefer E; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Legius E; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Theunis M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Buratti J; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Courtin T; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Misra-Isrie M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wieczorek D; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Schmetz A; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Debray FG; Centre Hospitalier Universitaire de Liège, Center of Human Genetics, Liège, Belgium., Bramswig NC; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Atallah I; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Fodstad H; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Almoguera B; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Tahsin-Swafiri S; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Molecular Diagnostics and Clinical Genetics Unit (UDMGC), Hospital Universitari Son Espses, IdISBa, Palma, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., López-González V; Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Sección de Genética Médica, Servicio de Pediatría, Murcia, Spain., Kibaek M; Pediatric Department, Odense University Hospital, Odense, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Õunap K; Tartu University Hospital, Genetic and Personalized Medicine Clinic, Department of Clinical Genetics, Tartu, Estonia.; University of Tartu, Institute of Clinical Medicine, Tartu, Estonia., Wojcik M; Department of Pediatrics, Boston Children's Hospital, Divisions of Newborn Medicine and Genetics and Genomics, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. hilde.vanesch@uzleuven.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 461-468. Date of Electronic Publication: 2023 Feb 07.
Autor:
den Hoed, J., De Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., McWalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.32-33
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.32-33
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::67c2ce3fabc43ad59477a311ce1a69d5
https://hal.archives-ouvertes.fr/hal-03131485
https://hal.archives-ouvertes.fr/hal-03131485
Autor:
Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Carli D; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy., Ferrero M; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy., Carestiato S; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Howe JL; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Agolini E; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Coviello DA; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., van de Laar I; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Fabbiani A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Croci S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Mencarelli MA; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Bruno LP; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Renieri A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Veltra D; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France., Mazel B; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France., Safraou H; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., van Slegtenhorst MA; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Giesbertz N; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., Childers A; Greenwood Genetic Center, Greenville, SC 29646, USA., Rogers RC; Greenwood Genetic Center, Greenville, SC 29646, USA., Novelli A; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Scherer SW; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Brusco A; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Feb 13; Vol. 146 (2), pp. 534-548.
Autor:
Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHUTRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Mallet D; Hospices Civils de Lyon, Groupement Hospitalier Est, Laboratoire de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Endocriniennes et Mucoviscidose, Bron, France.; Centre de Référence du Développement Génital: du Fœtus à l'Adulte, Filière Maladies Rares Endocriniennes, Bron, France., Roucher-Boulez F; Hospices Civils de Lyon, Groupement Hospitalier Est, Laboratoire de Biochimie et Biologie Moléculaire Grand Est, UM Pathologies Endocriniennes et Mucoviscidose, Bron, France.; Centre de Référence du Développement Génital: du Fœtus à l'Adulte, Filière Maladies Rares Endocriniennes, Bron, France.; Université de Lyon, Université Claude-Bernard Lyon 1, Lyon, France., Signor CB; Department of Endocrino-Pediatry, Dijon University Hospital, Dijon, France., Bournez M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France., Darmency V; Service de Neurophysiologie Clinique, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Bourgeois V; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Poe C; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., El Khabbaz F; Service de Soins Intensifs Néonataux, Centre Hospitalier d'Auxerre, Auxerre, France., Vitobello A; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Philippe C; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Duffourd Y; Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Thauvin-Robinet C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHUTRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHUTRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU Dijon Bourgogne, Dijon, France.; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHUTRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3540-3545. Date of Electronic Publication: 2022 Sep 09.
Autor:
Kayumi S; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Pérez-Jurado LA; Genetics Service, Hospital del Mar Medical Research Institute (IMIM), Network Research Centre for Rare Diseases (CIBERER), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain., Palomares M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Rangu S; Albert Einstein College of Medicine, Bronx, NY; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Kharbanda M; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., Amor DJ; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., McGillivray G; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; Adelaide Biomedical School, The University of Adelaide, Adelaide, South Australia, Australia., Webber DL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pozo AD; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Deardorff M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Departments of Pathology and Laboratory Medicine and Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Grand K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA., Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI., Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA., Ortiz-Gonzalez XR; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Perez de Nanclares G; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Pereda A; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Llano-Rivas I; Department of Genetics, Hospital de Cruces, Barakaldo, Spain., Arroyo I; Servicio de Neonatología, Hospital San Pedro de Alcántara, Cáceres, Spain., Fernández-Cuesta MÁ; Neuropediatrics, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bruel AL; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Tress ML; Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Fine AS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., Crompton KE; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stevens SCJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Lion-François L; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France., Haye D; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Piton A; Department of Medical genetics, Hopitaux Universitaires de Strasbourg, France., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bassetti J; Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medicine, New York, NY., Muss C; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Gripp KW; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Procopio RA; Department of Ophthalmology, Wills Eye Hospital, Philadelphia, PA., Millan F; GeneDX, Gaithersburg, MD., Morrow MM; GeneDX, Gaithersburg, MD., Assaf M; Banner Children's Specialists Neurology Clinic, Glendale, AZ., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA., Joss S; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Hamilton MJ; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Bertoli M; Northern Genetics Service, Newcastle upon Tyne, United Kingdom., Foulds N; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., McKee S; Northern Ireland Regional Genetics Centre, Belfast, United Kingdom., MacLennan AH; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. Electronic address: mark.corbett@adelaide.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. Date of Electronic Publication: 2022 Sep 09.