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

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

por Luzón-Toro, Berta, Fernández, Raquel M., Torroglosa, Ana, de Agustín, Juan Carlos, Méndez-Vidal, Cristina, Segura, Dolores Isabel, Antiñolo, Guillermo, Borrego, Salud
Publicado 2013

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

Novel small RNA expression libraries uncover hsa-miR-30b and hsa-miR-30c as important factors in anoikis resistance

por Moreno-Mateos, Miguel A., Barragán, Verónica, Torres, Belén, Rodríguez-Mateo, Cristina, Méndez-Vidal, Cristina, Berezikov, Eugene, Mudduluru, Giridhar, Allgayer, Heike, Pintor-Toro, José A.
Publicado 2013

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

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

por Méndez-Vidal, Cristina, González-del Pozo, María, Vela-Boza, Alicia, Santoyo-López, Javier, López-Domingo, Francisco J., Vázquez-Marouschek, Carmen, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Publicado 2013

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

A map of human microRNA variation uncovers unexpectedly high levels of variability

por Carbonell, José, Alloza, Eva, Arce, Pablo, Borrego, Salud, Santoyo, Javier, Ruiz-Ferrer, Macarena, Medina, Ignacio, Jiménez-Almazán, Jorge, Méndez-Vidal, Cristina, González-del Pozo, María, Vela, Alicia, Bhattacharya, Shomi S, Antiñolo, Guillermo, Dopazo, Joaquín
Publicado 2012

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

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

por Dopazo, Joaquín, Amadoz, Alicia, Bleda, Marta, Garcia-Alonso, Luz, Alemán, Alejandro, García-García, Francisco, Rodriguez, Juan A., Daub, Josephine T., Muntané, Gerard, Rueda, Antonio, Vela-Boza, Alicia, López-Domingo, Francisco J., Florido, Javier P., Arce, Pablo, Ruiz-Ferrer, Macarena, Méndez-Vidal, Cristina, Arnold, Todd E., Spleiss, Olivia, Alvarez-Tejado, Miguel, Navarro, Arcadi, Bhattacharya, Shomi S., Borrego, Salud, Santoyo-López, Javier, Antiñolo, Guillermo
Publicado 2016