| Authors: |
Masson A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Paccaud J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Orefice M; Department of Biology, University of Pisa, Pisa, Italy., Colin E; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; University Hospital of Angers, Angers, France., Mäkitie O; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden.; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Cormier-Daire V; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Ghosh S; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Strub JM; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France., Schaeffer-Reiss C; Laboratoire de Spectrométrie de Masse Bio Organique, IPHC UMR 7178 CNRS, Université de Strasbourg, Strasbourg, 67087, France.; Infrastructure Nationale de Protéomique ProFI, Strasbourg, 67087, France., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Vissers LE; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Aarts LA; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands., Zuurbier LC; Department of Clinical Genetics, Amsterdam UMC Location Research and Diagnostic Centre ADORE, Amsterdam, Netherlands., Plomp AS; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., de Man SA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Department of Pediatrics, Amphia Hospital, Breda, Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Bird LM; Department of Pediatrics, Rady Children's Hospital San Diego, Univeristy of California, San Diego, California, USA., Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC, USA., Guillen Sacoto MJ; GeneDx, LLC, Gaithersburg, Maryland, USA., Person R; GeneDx, LLC, Gaithersburg, Maryland, USA., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA., Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; The Ohio State University College of Medicine, Columbus, Ohio, USA., Hunter JM; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Lee K; Caris Life Sciences, Phoenix, Arizona, USA., Osman K; Genetics institute and., Halloun R; Pediatric endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Duplomb-Jego L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., El It F; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Duffourd Y; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Tran Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Huber C; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France.; Service de médecine génomique des maladies rares, Centre de référence pour les maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, F-75015, France., Gordon CT; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France., Taylan F; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Clinical Genetics and Genomics, Karolinska University Hospital, Solna, Sweden., Mäkitie RE; Folkhälsan Institute of Genetics, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Otorhinolaryngology, Head and Neck Surgery, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Costantini A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; INSERM UMR1163, Imagine Institute, Paris Cité University, Paris, France., Valta H; Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Robertson S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Poke G; Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Francoise M; Centre Hospitalier William Morey, Chalon-sur-Saône, France., Ciolfi A; Molecular Genetics and Functional Genomics and., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Zaid R; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Delanne J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Chevarin M; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Vautrot V; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Bourgeois V; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Nguyen S; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Marle N; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France., Callier P; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génétique Chromosomique et Moléculaire, Dijon, France., Safraou H; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Morgan A; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia., Hildebrand MS; Murdoch Children's Research Institute, Parkville, Australia.; Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Australia., Coman D; Queensland Children's Hospital, Brisbane, Australia.; School of Medicine, Univesrity of Queensland, Brisbane, Australia., Aubert Mucca M; Service de Génétique Médicale, Hôpital Purpan, CHU, 31059, Toulouse, France., Thevenon J; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France., Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Bilan F; GCS AURAGEN, Lyon, France.; CHU de Poitiers, Service de Génétique, EA3808 NEUVACOD, Poitiers, France., Pebrel-Richard C; GCS AURAGEN, Lyon, France.; Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, CHU Estaing, 63000 Clermont-Ferrand, France., Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, and., Axford MM; Division of Genome Diagnostics, Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Pérez-Jurado LA; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain.; Hospital del Mar - Hospital del Mar Research Institute, Barcelona, Spain., Sevilla-Porras M; Universitat Pompeu Fabra, CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Barcelona, Spain., Black DL; Department of Microbiology, Immunology, and Molecular Genetics, Molecular Biology Institute, David Geffen School of Medicine, UCLA, Los Angeles, California, USA., Philippe C; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Thauvin-Robinet C; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de référence maladies rares déficiences intellectuelles de causes rares, Centre de Génétique, FHU-TRANSLAD, Dijon, France., Olivier-Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares, Anomalies du Développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, Dijon, France., Ori M; Department of Biology, University of Pisa, Pisa, Italy., Thomas Q; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France. |
