Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

por González-del Pozo, María, Fernández-Suárez, Elena, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Publicado 2020

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification

por Martín-Sánchez, Marta, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Fernández-Suárez, Elena, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Publicado 2020

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

por González-del Pozo, María, Fernández-Suárez, Elena, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Rodríguez-de la Rúa, Enrique, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Borrego, Salud, Antiñolo, Guillermo
Publicado 2022

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

por Fernández-Suárez, Elena, González-del Pozo, María, García-Núñez, Alejandro, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mejías-Carrasco, José Manuel, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Publicado 2023