Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, Silvia Maitz, Francesco Canonico, Anya Revah‐Politi, Gabriel S. Kupchik, Kwame Anyane‐Yeboa, Vimla Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D'Arco, Cesar A. Alves, Adeline Vanderver, Daniela Longo, Enrico Bertini, Annalaura Torella, Vincenzo Nigro, Telethon Undiagnosed Diseases Program, Alessandra D'Amico, Marjo S. van der Knaap, Paola Goffrini, Nicola Brunetti‐Pierri
Hum Mutat. 2021 Jun; 42(6): 745–761. Published online 2021 May 11. doi: 10.1002/humu.24210