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