Publications

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Author Title [ Type(Desc)] Year
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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.
Alonso R, Salavert F, Garcia-Garcia F, et al. Babelomics 5.0: functional interpretation for new generations of genomic data. Nucleic acids research. 2015;43:W117-W121. doi:10.1093/nar/gkv384.
Bleda M, Tárraga J, De Maria A, et al. CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources. Nucleic acids research. 2012;40:W609-14. doi:10.1093/nar/gks575.
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.
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.
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.
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.
Lopez J, Coll J, Haimel M, et al. HGVA: the Human Genome Variation Archive. Nucleic Acids Res. 2017;45(W1):W189-W194. doi:10.1093/nar/gkx445.
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.
Bleda M, Medina I, Alonso R, De Maria A, Salavert F, Dopazo J. Inferring the regulatory network behind a gene expression experiment. Nucleic Acids Res. 2012;40(Web Server issue):W168-72. doi:10.1093/nar/gks573.
Falco MM, Bleda M, Carbonell-Caballero J, Dopazo J. The pan-cancer pathological regulatory landscape. Scientific Reports. 2016;6(1). doi:10.1038/srep39709.
Falco MM, Bleda M, Carbonell-Caballero J, Dopazo J. The pan-cancer pathological regulatory landscape. Scientific reports. 2016;6:39709. doi:10.1038/srep39709.
Fernández RM, Bleda M, Luzón-Toro B, et al. Pathways systematically associated to Hirschsprung’s disease. Orphanet journal of rare diseases. 2013;8:187. doi:10.1186/1750-1172-8-187.
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.
Medina I, De Maria A, Bleda M, et al. VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic Acids Res. 2012;40(Web Server issue):W54-8. doi:10.1093/nar/gks572.
Salavert F, García-Alonso L, Sánchez R, et al. Web-based network analysis and visualization using CellMaps. Bioinformatics. 2016;32(19):3041-3. doi:10.1093/bioinformatics/btw332.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biology. 2017;18(1). doi:10.1186/s13059-017-1174-6.