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2017
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.
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.
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.
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.
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.
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.
Sanghez V, Cubuk C, Sebastián-Leon P, et al. Chronic subordination stress selectively downregulates the insulin signaling pathway in liver and skeletal muscle but not in adipose tissue of male mice. Stress (Amsterdam, Netherlands). 2016:1-11. doi:10.3109/10253890.2016.1151491.
Prieto J, León M, Ponsoda X, et al. Dysfunctional mitochondrial fission impairs cell reprogramming. Cell Cycle. 2016;15(23):3240-3250. doi:10.1080/15384101.2016.1241930.
Prieto J, León M, Ponsoda X, et al. Dysfunctional mitochondrial fission impairs cell reprogramming. Cell Cycle. 2016;15(23):3240-3250. doi:10.1080/15384101.2016.1241930.
Medina I, Tárraga J, Martínez H, et al. Highly sensitive and ultrafast read mapping for RNA-seq analysis. DNA Res. 2016;23(2):93-100. doi:10.1093/dnares/dsv039.
Medina I, Tárraga J, Martínez H, et al. Highly sensitive and ultrafast read mapping for RNA-seq analysis. DNA Res. 2016;23(2):93-100. doi:10.1093/dnares/dsv039.
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.
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
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.
Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
Puchades-Carrasco L, Jantus-Lewintre E, Pérez-Rambla C, et al. Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer. Oncotarget. 2016;7(11):12904-16. doi:10.18632/oncotarget.7354.
Razzoli M, Frontini A, Gurney A, et al. Stress-induced activation of brown adipose tissue prevents obesity in conditions of low adaptive thermogenesis. Mol Metab. 2016;5(1):19-33. doi:10.1016/j.molmet.2015.10.005.
Razzoli M, Frontini A, Gurney A, et al. Stress-induced activation of brown adipose tissue prevents obesity in conditions of low adaptive thermogenesis. Mol Metab. 2016;5(1):19-33. doi:10.1016/j.molmet.2015.10.005.
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.
2015
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.
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.