Publications

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Journal Article
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.
Tárraga J, Arnau V, Martinez H, et al. Acceleration of short and long DNA read mapping without loss of accuracy using suffix array. Bioinformatics (Oxford, England). 2014;30:3396-3398. doi:10.1093/bioinformatics/btu553.
Salavert F, Hidago MR, Amadoz A, et al. Actionable pathways: interactive discovery of therapeutic targets using signaling pathway models. Nucleic acids research. 2016. doi:10.1093/nar/gkw369.
Ariño J, Casamayor A, Pérez JPerez, et al. Assessing Differential Expression Measurements by Highly Parallel Pyrosequencing and DNA Microarrays: A Comparative Study. Omics : a journal of integrative biology. 2013. doi:10.1089/omi.2011.0065.
Hernansaiz-Ballesteros RD, Salavert F, Sebastián-Leon P, Alemán A, Medina I, Dopazo J. Assessing the impact of mutations found in next generation sequencing data over human signaling pathways. Nucleic acids research. 2015;43:W270-W275. doi:10.1093/nar/gkv349.
Lupo V, Garcia-Garcia F, Sancho P, et al. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Götz S, Arnold R, Sebastián-Leon P, et al. B2G-FAR, a species centered GO annotation repository. Bioinformatics (Oxford, England). 2011;27:919-924.
Medina I, Carbonell J, Pulido L, et al. Babelomics: an integrative platform for the analysis of transcriptomics, proteomics and genomic data with advanced functional profiling. Nucleic Acids Research. 2010;38:W210-W213. Featured in NAR. Available at: http://nar.oxfordjournals.org/content/38/suppl_2/W210.full.
Romero A, Garcia-Garcia F, López-Perolio I, et al. BRCA1 Alternative splicing landscape in breast tissue samples. BMC cancer. 2015;15:219. doi:10.1186/s12885-015-1145-9.
Puig-Butille JAnton, Escamez MJosé, Garcia-Garcia F, et al. Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer. Oncotarget. 2013. Available at: http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path%5B%5D=1444&path%5B%5D=1824.
de Castro-Miró M, Pomares E, Lorés-Motta L, et al. Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. PloS one. 2014;9:e88410. doi:10.1371/journal.pone.0088410.
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.
del Pozo MGonzález-, Méndez-Vidal C, Santoyo-López J, et al. Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family. Molecular Genetics & Genomic Medicine. 2014;2:124-133. doi:10.1002/mgg3.50.
Fernandez P, Soria M, Blesa D, et al. Development, Characterization and Experimental Validation of a Cultivated Sunflower (Helianthus annuus L.) Gene Expression Oligonucleotide Microarray. PloS one. 2012;7:e45899. doi:10.1371/journal.pone.0045899.
González-Pérez S, Gutiérrez J, Garcia-Garcia F, et al. Early transcriptional defence responses in Arabidopsis cell suspension culture under high light conditions. Plant physiology. 2011;156:1439-56. Available at: http://www.plantphysiol.org/content/early/2011/04/29/pp.111.177766.short?keytype=ref&ijkey=ph5B6J2khjnqwzN.
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.
Peña A, Teeling H, Huerta-Cepas J, et al. Fine-scale evolution: genomic, phenotypic and ecological differentiation in two coexisting Salinibacter ruber strains. The ISME journal. 2010.
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 journal of rare diseases. 2012;7:103. doi:10.1186/1750-1172-7-103.
Medina I, Salavert F, Sánchez R, et al. Genome Maps, a new generation genome browser. Nucleic acids research. 2013;41:W41-W46. doi:10.1093/nar/gkt530.
Sánchez-Tena S, Lizarraga D, Miranda A, et al. Grape antioxidant dietary fiber (GADF) inhibits intestinal polyposis in ApcMin/+ mice: relation to cell cycle and immune response. Carcinogenesis. 2013. doi:10.1093/carcin/bgt140.
Terol J, Ibañez V, Carbonell J, et al. Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation. BMC genomics. 2015;16:69. doi:10.1186/s12864-015-1280-3.
Sánchez-Tena S, Reyes-Zurita FJ, Díaz-Moralli S, et al. Maslinic Acid-Enriched Diet Decreases Intestinal Tumorigenesis in Apc(Min/+) Mice through Transcriptomic and Metabolomic Reprogramming. PloS one. 2013;8:e59392. doi:10.1371/journal.pone.0059392.
Rian K, Esteban-Medina M, Hidalgo MR, et al. Mechanistic modeling of the SARS-CoV-2 disease map. BioRxiv. 2020. doi:10.1101/2020.04.12.025577.
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.