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Journal Article
Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.
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.
Méndez-Vidal C, del Pozo MGonzález-, Vela-Boza A, et al. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Molecular vision. 2013;19:2187-95. Available at: http://www.molvis.org/molvis/v19/2187/.
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.
Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
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.
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.
Gawron P, Hoksza D, Piñero J, et al. Visualization of automatically combined disease maps and pathway diagrams for rare diseases. Front Bioinform. 2023;3:1101505. doi:10.3389/fbinf.2023.1101505.
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.
Garrido-Rodriguez M, López-López D, Ortuno FM, et al. A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.
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.
Peña-Chilet M, Esteban-Medina M, Falco MM, et al. Using mechanistic models for the clinical interpretation of complex genomic variation. Scientific Reports. 2019;9(1). doi:10.1038/s41598-019-55454-7.
Torres JSalavert, Espert IBlanquer, Dominguez ATomas, et al. Using GPUs for the Exact Alignment of Short-read Genetic Sequences by Means of the Burrows–Wheeler Transform. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM. 2012;9:1245-1256. doi:10.1109/TCBB.2012.49.
Amadoz A, Sebastián-Leon P, Vidal E, Salavert F, Dopazo J. Using activation status of signaling pathways as mechanism-based biomarkers to predict drug sensitivity. Sci Rep. 2015;5:18494. doi:10.1038/srep18494.
Dopazo J. On the Use of Functional Module Definitions in the Analysis of Genomic Experiments. Molecular and Cellular Toxicology. 2009;5:47-47.
Capriotti E, Arbiza L, Casadio R, Dopazo J, Dopazo H, Marti-Renom MA. Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans. Hum Mutat. 2008;29(1):198-204. doi:10.1002/humu.20628.
Sebastián-Leon P, Vidal E, Minguez P, et al. Understanding disease mechanisms with models of signaling pathway activities. BMC systems biology. 2014;8:121. doi:10.1186/s12918-014-0121-3.
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.
Carcel-Trullols J, Aguilar-Gallardo C, García-Alcalde F, et al. Transdifferentiation of MALME-3M and MCF-7 Cells toward Adipocyte-like Cells is Dependent on Clathrin-mediated Endocytosis. SpringerPlus. 2012;1:44. doi:10.1186/2193-1801-1-44.
Hillung J, Garcia-Garcia F, Dopazo J, Cuevas JM, Elena SF. The transcriptomics of an experimentally evolved plant-virus interaction. Sci Rep. 2016;6:24901. doi:10.1038/srep24901.
León C, Garcia-Garcia F, Llames S, et al. Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response. Genes (Basel). 2020;12(1). doi:10.3390/genes12010047.
Casimiro-Soriguer CS, Loucera C, Peña-Chilet M, Dopazo J. Towards a metagenomics machine learning interpretable model for understanding the transition from adenoma to colorectal cancer. Sci Rep. 2022;12(1):450. doi:10.1038/s41598-021-04182-y.
Méndez-Salazar EOrlando, Vázquez-Mellado J, Casimiro-Soriguer CS, et al. Taxonomic variations in the gut microbiome of gout patients with and without tophi might have a functional impact on urate metabolism. Mol Med. 2021;27(1):50. doi:10.1186/s10020-021-00311-5.
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.