1. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS , 00146 Rome , Italy
2. Hubrecht Institute-KNAW and University Medical Center Utrecht , 3584 Utrecht , The Netherlands
3. Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré , 75019 Paris , France
4. INSERM UMR 1131 , Institut de Recherche Saint-Louis, , 75010 Paris , France
5. Université de Paris , Institut de Recherche Saint-Louis, , 75010 Paris , France
6. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen , 45147 Essen , Germany
7. UOSD Genetica Medica, Grandeospedale Metropolitano “Bianchi-Melacrino-Morelli” , 89124 Reggio Calabria , Italia
8. Super Computing Applications and Innovation, CINECA , 40033 Bologna , Italy
9. National Centre Rare Diseases, Istituto Superiore di Sanità , 00161 Rome , Italy
10. Department of Biology and Biotechnology “Charles Darwin”, Sapienza University of Rome , 00185 Rome , Italy
11. Genetic Diseases Evaluation Center , Medical Genetics Department, , İstanbul 34010 , Turkey
12. Koç University School of Medicine , Medical Genetics Department, , İstanbul 34010 , Turkey
13. Center for Rare Diseases and Birth Defects , Department of Woman and Child Health and Public Health, , 00168 Rome , Italy
14. Fondazione Policlinico Universitario A. Gemelli, IRCCS , Department of Woman and Child Health and Public Health, , 00168 Rome , Italy
15. Institute of Human Genetics, University Hospital Magdeburg , 39120 Magdeburg , Germany
16. Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre , 94270 Le Kremlin Bicêtre , France
17. INSERM UMR 1018, Cancer and Radiation Team, CESP , 94800 Villejuif , France
18. Service de Médecine Genomique des Maladies Rares, CRMR Anomalies du développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris , 75015 Paris , France
19. Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità , 00161 Rome , Italy
20. Alma Mater Studiorum, University of Bologna , 40125 Bologna , Italy
21. Department of Woman and Child Health and Public Health, Università Cattolica del Sacro Cuore , 00168 Rome , Italy
22. Department for Innovation in Biological, Agro-food and Forest systems, Università della Tuscia , 01100 Viterbo , Italy
23. Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale delle Ricerche , 70126 Bari , Italy