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2015
Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
Amadoz A, Sebastián-Leon P, Vidal E, Salavert F, Dopazo J. Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity. Sci Rep. 2015;5:18494. doi:10.1038/srep18494.
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.
2014
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.
López-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-López J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014;30(12):1767-8. doi:10.1093/bioinformatics/btu108.
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.
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.
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.
2013
Galan A, Diaz-Gimeno P, Poo MEugenia, et al. Defining the genomic signature of totipotency and pluripotency during early human development. PLoS One. 2013;8(4):e62135. doi:10.1371/journal.pone.0062135.
Aguerri M, Calzada D, Montaner D, et al. Differential gene-expression analysis defines a molecular pattern related to olive pollen allergy. J Biol Regul Homeost Agents. 2013;27(2):337-50.
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.
Sebastián-Leon P, Carbonell J, Salavert F, Sánchez R, Medina I, Dopazo J. Inferring the functional effect of gene expression changes in signaling pathways. Nucleic Acids Res. 2013;41(Web Server issue):W213-7. doi:10.1093/nar/gkt451.
Iglesias JManuel, Beloqui I, Garcia-Garcia F, et al. Mammosphere formation in breast carcinoma cell lines depends upon expression of E-cadherin. PLoS One. 2013;8(10):e77281. doi:10.1371/journal.pone.0077281.
Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta. 2013;421:184-90. doi:10.1016/j.cca.2013.03.011.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung's disease. Orphanet J Rare Dis. 2013;8:187. doi:10.1186/1750-1172-8-187.
Puig-Butille JAnton, Malvehy J, Potrony M, et al. Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters. Exp Dermatol. 2013;22(7):494-6. doi:10.1111/exd.12177.
2012
García-Alonso L, Alonso R, Vidal E, et al. Discovering the hidden sub-network component in a ranked list of genes or proteins derived from genomic experiments. Nucleic Acids Res. 2012;40(20):e158. doi:10.1093/nar/gks699.
Ventoso I, Kochetov A, Montaner D, Dopazo J, Santoyo J. Extensive translatome remodeling during ER stress response in mammalian cells. PLoS One. 2012;7(5):e35915. doi:10.1371/journal.pone.0035915.
Fernández RMa, Bleda M, Núñez-Torres R, et al. Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease. Orphanet J Rare Dis. 2012;7:103. doi:10.1186/1750-1172-7-103.
Carrero R, Cerrada I, Lledó E, et al. IL1β induces mesenchymal stem cells migration and leucocyte chemotaxis through NF-κB. Stem Cell Rev Rep. 2012;8(3):905-16. doi:10.1007/s12015-012-9364-9.
De Baets G, Van Durme J, Reumers J, et al. SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants. Nucleic Acids Res. 2012;40(Database issue):D935-9. doi:10.1093/nar/gkr996.
Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.
2011
Tarazona S, García-Alcalde F, Dopazo J, Ferrer A, Conesa A. Differential expression in RNA-seq: a matter of depth. Genome Res. 2011;21(12):2213-23. doi:10.1101/gr.124321.111.
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.
Yung S, Ledran M, Moreno-Gimeno I, et al. Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells. Hum Mol Genet. 2011;20(24):4932-46. doi:10.1093/hmg/ddr431.