Publications

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2017
Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
Olanda R, Pérez M, Orduña JM, Tárraga J, Dopazo J. A new parallel pipeline for DNA methylation analysis of long reads datasets. BMC bioinformatics. 2017;18:161. doi:10.1186/s12859-017-1574-3.
Carbonell-Caballero J, Amadoz A, Alonso R, et al. Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 2017;33(22):3511-3517. doi:10.1093/bioinformatics/btx482.
Juanes JM, Gallego A, Tárraga J, et al. VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy. BMC Bioinformatics. 2017;18(1):421. doi:10.1186/s12859-017-1837-z.
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.
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.
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.
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.
Lagarde J, Uszczynska-Ratajczak B, Santoyo-López J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature Communications. 2016;7(1). doi:10.1038/ncomms12339.
Lagarde J, Uszczynska-Ratajczak B, Santoyo-López J, et al. Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq). Nature communications. 2016;7:12339. doi:10.1038/ncomms12339.
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.
Tárraga J, Gallego A, Arnau V, Medina I, Dopazo J. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC bioinformatics. 2016;17:107. doi:10.1186/s12859-016-0966-0.
Tárraga J, Gallego A, Arnau V, Medina I, Dopazo J. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC Bioinformatics. 2016;17(1). doi:10.1186/s12859-016-0966-0.
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.
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.
Garcia-Garcia F, Panadero J, Dopazo J, Montaner D. Integrated gene set analysis for microRNA studies. Bioinformatics. 2016;32(18):2809-16. doi:10.1093/bioinformatics/btw334.
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.
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.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
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.