1INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France
2MAGEC-Mosaïque Reference Center, Dijon University Hospital, Dijon, France
3Neuropaediatrics and Development Pathology Department, Trousseau Hospital, AP–HP, Paris, France
4Genetics Department and Reference Center for rare causes of Intellectual Disability, Pitié-Salpêtrière hospital, AP-HP, Paris, France
5Plateforme IBiSA de Microscopie Electronique, Anatomie et cytologie pathologique, Université et CHRU de Tours, Tours, France
6INSERM U1259 MAVIVH, Université et CHRU de Tours, Tours, France
7Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France
8Pathology department, Dijon-Burgundy University Hospital, Dijon, France
9The University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge, UK
10Pediatrics and Medical Genetics Department, Dijon-Bourgogne University Hospital, Dijon, France
11Service d’Anatomie et Cytologie Pathologique, Necker-Enfants Malades Hospital, Paris, France
12Paediatric Dermatology, Great Ormond St Hospital for Children NHS Foundation Trust, London, UK
13UCL GOS Institute of Child Health, London, UK
14Mosaicism and Precision Medicine laboratory, Francis Crick Institute, London, UK
15National Genotyping Center, Genomic Institute, CEA, Evry, France
16Clinical Genetics department, Rennes University Hospital, Rennes, France
17Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France
18Medical Genetics Unit, CHU La Réunion, Saint-Pierre, France
19Clinical Genetics Department, Créteil Hospital, Créteil, France
20Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne University Hospital, Dijon, France
21Medical Genetic Department, Jeanne de Flandre Hospital, Lille, France
22Dermatology department, Lille University Hospital, Lille, France
23Pediatric and Fetal Imaging Department, Hospices Civils de Lyon, Bron, France
24Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France
25Brain Dynamics and Cognition (DYCOG) Team, Lyon Neuroscience Research Centre, Lyon, France
26Cytogenetics Department, Dijon University Hospital, Dijon, France
27Medical genetics department, Pôle Femme et Enfant, Clermont-Ferrand University Hospital–Hôpital d’Estaing, Clermont-Ferrand, France
28Dermatology Department, Montpellier University Hospital, Montpellier, France
29Medical Genetics Department, Montpellier University Hospital, Montpellier, France
30Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital d’Enfants, Dijon, France
31Center for Cardiovascular Science, University of Edinburgh, Edinburgh, UK
32Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, Dijon, France