Publications

Export 504 results:
Author Title [ Type(Asc)] Year
Filters: Filter is   [Clear All Filters]
Journal Article
del Pozo MGonzález-, Méndez-Vidal C, Bravo-Gil N, et al. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, et al. Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific Reports. 2015;5(1). doi:10.1038/srep16473.
Tort F, García-Silva MTeresa, Ferrer-Cortès X, et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.
Yi X, Conesa A, Punt PJ, Hager LP. Examining the role of glutamic acid 183 in chloroperoxidase catalysis. J Biol Chem. 2003;278:13855-9. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12576477.
De Baets G, Reumers J, Blanco JDelgado, Dopazo J, Schymkowitz J, Rousseau F. An evolutionary trade-off between protein turnover rate and protein aggregation favors a higher aggregation propensity in fast degrading proteins. PLoS computational biology. 2011;7:e1002090. doi:10.1371/journal.pcbi.1002090.
Panjkovich A, Melo F, Marti-Renom MA. Evolutionary potentials: structure specific knowledge-based potentials exploiting the evolutionary record of sequence homologs. Genome Biol. 2008;9:R68. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18397517.
Lavagnino N, Serra F, Arbiza L, Dopazo H, Hasson E. Evolutionary Genomics of Genes Involved in Olfactory Behavior in the Drosophila melanogaster Species Group. Evolutionary bioinformatics online. 2012;8:89-104. doi:10.4137/EBO.S8484.
López M, Rueda A, Florido JP, et al. Evolution of the Quorum network and the mobilome (plasmids and bacteriophages) in clinical strains of Acinetobacter baumannii during a decade. Sci Rep. 2018;8(1):2523. doi:10.1038/s41598-018-20847-7.
Gonçalves LG, Borges N, Serra F, Fernandes PL, Dopazo H, Santos H. Evolution of the biosynthesis of di-myo-inositol phosphate, a marker of adaptation to hot marine environments. Environmental microbiology. 2011. doi:10.1111/j.1462-2920.2011.02621.x.
Gabaldón T. Evolution of proteins and proteomes: a phylogenetics approach. Evol Bioinform Online. 2005;1:51-61. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=19325853.
Loucera C, Carmona R, Bostelmann G, et al. Evidence of the association between increased use of direct oral anticoagulants and a reduction in the rate of atrial fibrillation-related stroke and major bleeding at the population level (2012-2019). Med Clin (Barc). 2023. doi:10.1016/j.medcli.2023.10.008.
Hernández P, Huerta-Cepas J, Montaner D, et al. Evidence for systems-level molecular mechanisms of tumorigenesis. BMC Genomics. 2007;8:185. doi:10.1186/1471-2164-8-185.
Hernandez P, Huerta-Cepas J, Montaner D, et al. Evidence for systems-level molecular mechanisms of tumorigenesis. BMC Genomics. 2007;8:185. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17584915.
Huerta-Cepas J, Dopazo J, Huynen MA, Gabaldón T. Evidence for short-time divergence and long-time conservation of tissue-specific expression after gene duplication. Brief Bioinform. 2011;12(5):442-8. doi:10.1093/bib/bbr022.
Chaves-Blanco L, de Salazar A, Fuentes A, et al. Evaluation of a combined detection of SARS-CoV-2 and its variants using real-time allele-specific PCR strategy: an advantage for clinical practice. Epidemiol Infect. 2023;151:e201. doi:10.1017/S095026882300184X.
Koh IY, Eyrich VA, Marti-Renom MA, et al. EVA: Evaluation of protein structure prediction servers. Nucleic Acids Res. 2003;31:3311-5. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=12824315.
Eyrich VA, Marti-Renom MA, Przybylski D, et al. EVA: continuous automatic evaluation of protein structure prediction servers. Bioinformatics. 2001;17:1242-3. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11751240.
Huerta-Cepas J, Dopazo J, Gabaldón T. ETE: a python Environment for Tree Exploration. BMC Bioinformatics. 2010;11:24. doi:10.1186/1471-2105-11-24.
Milne RL, Ribas G, Gonzalez-Neira A, et al. ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res. 2006;66:9420-7. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17018596.
Puerto-Camacho P, Diaz-Martin J, Olmedo-Pelayo J, et al. Endoglin and MMP14 Contribute to Ewing Sarcoma Spreading by Modulation of Cell-Matrix Interactions. Int J Mol Sci. 2022;23(15). doi:10.3390/ijms23158657.
Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.
Sevilla T, Sivera R, Martínez-Rubio D, et al. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol. 2015;22(12):1548-55. doi:10.1111/ene.12782.
Ferreira PG, Muñoz-Aguirre M, Reverter F, et al. The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
Łabaj PP, Dopazo J, Xiao W, Kreil DP. Editorial: Critical assessment of massive data analysis (CAMDA) annual conference 2021. Front Genet. 2023;14:1154398. doi:10.3389/fgene.2023.1154398.