poRe: an R package for the visualization and analysis of nanopore sequencing data

by Watson, Mick, Thomson, Marian, Risse, Judith, Talbot, Richard, Santoyo-Lopez, Javier, Gharbi, Karim, Blaxter, Mark
Published 2015

The role of the interactome in the maintenance of deleterious variability in human populations

by Garcia-Alonso, Luz, Jiménez-Almazán, Jorge, Carbonell-Caballero, Jose, Vela-Boza, Alicia, Santoyo-López, Javier, Antiñolo, Guillermo, Dopazo, Joaquin
Published 2014

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

by 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
Published 2013

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

Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)

by Lagarde, Julien, Uszczynska-Ratajczak, Barbara, Santoyo-Lopez, Javier, Gonzalez, Jose Manuel, Tapanari, Electra, Mudge, Jonathan M., Steward, Charles A., Wilming, Laurens, Tanzer, Andrea, Howald, Cédric, Chrast, Jacqueline, Vela-Boza, Alicia, Rueda, Antonio, Lopez-Domingo, Francisco J., Dopazo, Joaquin, Reymond, Alexandre, Guigó, Roderic, Harrow, Jennifer
Published 2016

PAX4 preserves endoplasmic reticulum integrity preventing beta cell degeneration in a mouse model of type 1 diabetes mellitus

by Mellado-Gil, José Manuel, Jiménez-Moreno, Carmen María, Martin-Montalvo, Alejandro, Alvarez-Mercado, Ana Isabel, Fuente-Martin, Esther, Cobo-Vuilleumier, Nadia, Lorenzo, Petra Isabel, Bru-Tari, Eva, de Gracia Herrera-Gómez, Irene, López-Noriega, Livia, Pérez-Florido, Javier, Santoyo-López, Javier, Spyrantis, Andreas, Meda, Paolo, Boehm, Bernhard O., Quesada, Ivan, Gauthier, Benoit R.
Published 2016

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

by 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
Published 2016