Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

2024 . D’Abrusco, Fulvio | Serpieri, Valentina | Taccagni, Cecilia Maria | Garau, Jessica | Cattaneo, Luca | Boggioni, Monica | Gana, Simone | Battini, Roberta | Bertini, Enrico | Zanni, Ginevra | Boltshauser, Eugen | Borgatti, Renato | Romaniello, Romina | Signorini, Sabrina | Leuzzi, Vincenzo | Caputi, Caterina | Manti, Filippo | D’Arrigo, Stefano | De Laurentiis, Arianna | Graziano, Claudio | Lemke, Johannes | Morelli, Federica | Petković Ramadža, Danijela | Sirchia, Fabio | Giorgio, Elisa | Valente, Enza Maria