| Authors: |
Engel C; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France. cengel@chu-besancon.fr.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France. cengel@chu-besancon.fr., Rendek M; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France., Assoumani J; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Ariani F; 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., Avice-Denizet AL; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Blanc P; Laboratoire Seqoia, Paris, France., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Department of Medicine and Surgery, University of Milan-Bicocca, Monza, Italy., Callewaert B; Reference centre for Mendelian connective tissue disorders-UZ Gent, Ghent University Hospital-UZ Gent, Gent, Belgium., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Carullo M; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Chesneau B; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France., Coppens S; Center for Medical Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Curry C; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA., Dale B; Genetics and Metabolics Clinic, McMaster Children's Hospital, Hamilton, ON, Canada., Dahlen E; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France., Delahaye-Duriez A; UF médecine génomique et génétique clinique, Hôpital Jean Verdier, Hôpitaux Universitaires de Paris Seine Saint Denis, AP-HP, Bondy, France.; UFR de Santé Médecine et Biologie humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot UMR 1141, Inserm, Université de Paris, Paris, France., Denommé-Pichon AS; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Demeer B; Service de Génétique Clinique et Oncogénétique, CHU Amiens-Picardie, Amiens, France., Dvořáková L; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Fischer J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany., Geneviève D; Université Montpellier, Centre de référence anomalies du développement et syndromes malformatifs, Génétique Clinique, CHU Montpellier, Montpellier, France., Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy., Handrup MM; Center for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark., Heron D; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Isidor B; Service de génétique médicale, Unité de génétique clinique, CHU Hôtel Dieu, 1 place Alexis Ricordeau, Nantes, France., Keren B; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Kübler A; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany., Laštůvková J; Department of Medical Genetics, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Ústí nad Labem, Czech Republic., Le C; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Maitz S; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, Switzerland, Switzerland., Marlin S; Centre de référence « Surdités Génétiques », Service de Médecine génomique des Maladies rares, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France.; Institut Imagine, Paris, France., Mignot C; Département de génétique médicale, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Mirzaa G; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Nagel I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany., Neuens S; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Pao E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Pecková A; Department of Medical Genetics, Masaryk Hospital in Ústí nad Labem, Regional Health Corporation, Ústí nad Labem, Czech Republic., Plaisancie J; Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse, France., Porrmann J; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany., Privitera F; Department of Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Rio M; Necker Hospital, APHP, Reference Center for Intellectual Disability, Genetics Department, Institut Imagine, University of Paris, Paris, France., Rippert A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ryba L; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Schieving JH; Radboud University Medical Center, Department of Neurology, Nijmegen, The Netherlands., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Shuen A; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Sidlow R; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA., Smol T; Institut de Génétique Médicale, CHU Lille, Avenue Oscar Lambret, Lille, France., Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Interuniversitary Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium., 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., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK., Syryn H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of biomolecular medicine, Ghent university, Ghent, Belgium., Tran Mau-Them F; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Travessa AM; Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.; Institute of Histology and Developmental Biology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Van Gils J; Department of Medical Genetics, University Hospital of Bordeaux and INSERM U1211, University of Bordeaux, Bordeaux, France., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Verseput JJA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Vincent-Delorme C; CHU Lille, Clinique de Génétique, Lille, France., Vyhnálková E; Department of Biology and Medical Genetics, Charles University-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Kuentz P; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France.; Université de Franche-Comté, CHU Besançon, Oncobiologie Génétique Bioinformatique, FHU-TRANSLAD et Institut GIMI, Besançon, France., Piard J; Université de Franche-Comté, Centre de Génétique Humaine, CHU Besançon, Besançon, France. jpiard@chu-besancon.fr.; Université de Bourgogne, INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, France. jpiard@chu-besancon.fr. |
