Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

por Bravo-Gil, Nereida, Marcos, Irene, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2019

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

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

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

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

Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

por Tous, Cristina, Muñoz-Redondo, Carmen, Bravo-Gil, Nereida, Gavilan, Angela, Fernández, Raquel María, Antiñolo, Juan, Navarro-González, Elena, Antiñolo, Guillermo, Borrego, Salud
Publicado 2023

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases

por Bravo-Gil, Nereida, González-del Pozo, María, Martín-Sánchez, Marta, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Publicado 2017

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

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

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

por González-del Pozo, María, Martín-Sánchez, Marta, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Chimenea, Ángel, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Publicado 2018

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

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

por 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
Publicado 2014

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