Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

by Pozo, María González-del, Méndez-Vidal, Cristina, Bravo-Gil, Nereida, Vela-Boza, Alicia, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Published 2014

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

by Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published 2014

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

by Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published 2016

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

by González-del Pozo, María, Méndez-Vidal, Cristina, Santoyo-Lopez, Javier, Vela-Boza, Alicia, Bravo-Gil, Nereida, Rueda, Antonio, García-Alonso, Luz, Vázquez-Marouschek, Carmen, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published 2014