Publications

Export 510 results:
Author Title Type [ Year(Asc)]
2014
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics (Oxford, England). 2014;30:1767-1768. doi:10.1093/bioinformatics/btu108.
Calpena E, Martínez-Rubio D, Arpa J, et al. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscul Disord. 2014;24(8):660-5. doi:10.1016/j.nmd.2014.04.004.
Calpena E, Martínez-Rubio D, Arpa J, et al. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21. Neuromuscular disorders : NMD. 2014;24:660-5. doi:10.1016/j.nmd.2014.04.004.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC genetics. 2014;15:143. doi:10.1186/s12863-014-0143-2.
Ponzoni I, Nueda M, Tarazona S, et al. Pathway network inference from gene expression data. BMC Syst Biol. 2014;8 Suppl 2:S7. doi:10.1186/1752-0509-8-S2-S7.
Ponzoni I, Nueda M, Tarazona S, et al. Pathway network inference from gene expression data. BMC systems biology. 2014;8 Suppl 2:S7. doi:10.1186/1752-0509-8-S2-S7.
Torre I, González-Tendero A, García-Cañadilla P, et al. Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction. PLoS One. 2014;9(11):e113067. doi:10.1371/journal.pone.0113067.
Torre I, González-Tendero A, García-Cañadilla P, et al. Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction. PloS one. 2014;9:e113067. doi:10.1371/journal.pone.0113067.
Gutiérrez J, González-Pérez S, Garcia-Garcia F, et al. Programmed cell death activated by Rose Bengal in Arabidopsis thaliana cell suspension cultures requires functional chloroplasts. Journal of experimental botany. 2014. doi:10.1093/jxb/eru151.
Minguez P, Letunic I, Parca L, et al. PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins. Nucleic acids research. 2014;43:D494-D502. doi:10.1093/nar/gku1081.
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Molecular systems biology. 2014;10:752. doi:10.15252/msb.20145222.
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
Larriba E, Jaime MDLA, Carbonell-Caballero J, et al. Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia. Fungal genetics and biology : FG & B. 2014;66:69–80. doi:10.1016/j.fgb.2014.02.002.
Larriba E, Jaime MDLA, Carbonell-Caballero J, et al. Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia. Fungal Genet Biol. 2014;65:69-80. doi:10.1016/j.fgb.2014.02.002.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
García-Cazorla A, Oyarzabal A, Fort J, et al. Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Human mutation. 2014;35:470-7. doi:10.1002/humu.22513.
Sebastián-Leon P, Vidal E, Minguez P, et al. Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Sebastián-Leon P, Vidal E, Minguez P, et al. Understanding disease mechanisms with models of signaling pathway activities. BMC Syst Biol. 2014;8:121. doi:10.1186/s12918-014-0121-3.
Alemán A, Garcia-Garcia F, Medina I, Dopazo J. A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications. Nucleic acids research. 2014;42:W83-W87. doi:10.1093/nar/gku472.
Alemán A, Garcia-Garcia F, Medina I, Dopazo J. A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications. Nucleic Acids Res. 2014;42(Web Server issue):W83-7. doi:10.1093/nar/gku472.
Alemán A, Garcia-Garcia F, Salavert F, Medina I, Dopazo J. A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. Nucleic acids research. 2014;42:W88-W93. doi:10.1093/nar/gku407.
Alemán A, Garcia-Garcia F, Salavert F, Medina I, Dopazo J. A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies. Nucleic Acids Res. 2014;42(Web Server issue):W88-93. doi:10.1093/nar/gku407.