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2014
F Carmona J, Davalos V, Vidal E, et al. A Comprehensive DNA Methylation Profile of Epithelial-to-Mesenchymal Transition. Cancer research. 2014;74:5608–19. doi:10.1158/0008-5472.CAN-13-3659.
Tenorio J, Mansilla A, Valencia M, et al. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
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.
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 (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.
2015
Ewing AD, Houlahan KE, Hu Y, et al. Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. participants ICGC-TCGADREAMSoma, Xi L, Dewal N, et al., eds. Nature methods. 2015. doi:10.1038/nmeth.3407.
Ewing AD, Houlahan KE, Hu Y, et al. Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. participants ICGC-TCGADREAMSoma, Xi L, Dewal N, et al., eds. Nature methods. 2015. doi:10.1038/nmeth.3407.
Ewing AD, Houlahan KE, Hu Y, et al. Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. participants ICGC-TCGADREAMSoma, Xi L, Dewal N, et al., eds. Nature methods. 2015. doi:10.1038/nmeth.3407.
de la Rosa LRodríguez, Sánchez-Calderón H, Contreras J, et al. Comparative gene expression study of the vestibular organ of the Igf1 deficient mouse using whole-transcript arrays. Hearing research. 2015. doi:10.1016/j.heares.2015.08.016.
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.
Fonseca RF, de Carvalho FM, Poletta FA, et al. Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. Eur J Oral Sci. 2015;123(5):381-384. doi:10.1111/eos.12212.
Luzón-Toro B, Bleda M, Navarro E, et al. Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC Medical Genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.
Luzón-Toro B, Bleda M, Navarro E, et al. Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas. BMC medical genomics. 2015;8:83. doi:10.1186/s12920-015-0160-7.
Calzada D, Aguerri M, Baos S, et al. Therapeutic targets for olive pollen allergy defined by gene markers modulated by Ole e 1-derived peptides. Molecular immunology. 2015;64:252-61. doi:10.1016/j.molimm.2014.12.002.
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. Human molecular genetics. 2015;24:4037-4048. doi:10.1093/hmg/ddv140.
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.
2016
Dopazo J, Amadoz A, Bleda M, et al. 267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Molecular biology and evolution. 2016. doi:10.1093/molbev/msw005.
Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.
Corton M, Avila-Fernández A, Campello L, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.
Moschen S, Luoni SBengoa, Di Rienzo JA, et al. Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower. Plant Biotechnol J. 2016;14(2):719-34. doi:10.1111/pbi.12422.
Moschen S, Luoni SBengoa, Di Rienzo JA, et al. Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower. Plant Biotechnol J. 2016;14(2):719-34. doi:10.1111/pbi.12422.
Falco MM, Bleda M, Carbonell-Caballero J, Dopazo J. The pan-cancer pathological regulatory landscape. Scientific reports. 2016;6:39709. doi:10.1038/srep39709.
Falco MM, Bleda M, Carbonell-Caballero J, Dopazo J. The pan-cancer pathological regulatory landscape. Scientific Reports. 2016;6(1). doi:10.1038/srep39709.