Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Npj Genomic Medicine
Sangermano, Riccardo R; Deitch, Iris I; Peter, Virginie G VG; Ba-Abbad, Rola R; Place, Emily M EM; Zampaglione, Erin E; Wagner, Naomi E NE; Fulton, Anne B AB; Coutinho-Santos, Luisa L; Rosin, Boris B; Dunet, Vincent V; AlTalbishi, Ala'a A; Banin, Eyal E; Sousa, Ana Berta AB; Neves, Mariana M; Larson, Anna A; Quinodoz, Mathieu M; Michaelides, Michel M; Ben-Yosef, Tamar T; Pierce, Eric A EA; Rivolta, Carlo C; Webster, Andrew R AR; Arno, Gavin G; Sharon, Dror D; Huckfeldt, Rachel M RM; Bujakowska, Kinga M KM