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2023
León M, Prieto J, Molina-Navarro MMicaela, et al. Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. Cell Death Discov. 2023;9(1):217. doi:10.1038/s41420-023-01531-w.
Loucera C, Carmona R, Esteban-Medina M, et al. Real-world evidence with a retrospective cohort of 15,968 COVID-19 hospitalized patients suggests 21 new effective treatments. Virol J. 2023;20(1):226. doi:10.1186/s12985-023-02195-9.
A second update on mapping the human genetic architecture of COVID-19. Nature. 2023;621(7977):E7-E26. doi:10.1038/s41586-023-06355-3.
Gundogdu P, Alamo I, Nepomuceno-Chamorro IA, Dopazo J, Loucera C. SigPrimedNet: A Signaling-Informed Neural Network for scRNA-seq Annotation of Known and Unknown Cell Types. Biology (Basel). 2023;12(4). doi:10.3390/biology12040579.
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.
2022
Loucera C, Perez-Florido J, Casimiro-Soriguer CS, et al. Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival. Viruses. 2022;14(9). doi:10.3390/v14091893.
Luque J, Mendes I, Gómez B, et al. CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative. Clin Genet. 2022. doi:10.1111/cge.14113.
López-Sánchez M, Loucera C, Peña-Chilet M, Dopazo J. Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac007.
Puerto-Camacho P, Diaz-Martin J, Olmedo-Pelayo J, et al. Endoglin and MMP14 Contribute to Ewing Sarcoma Spreading by Modulation of Cell-Matrix Interactions. Int J Mol Sci. 2022;23(15). doi:10.3390/ijms23158657.
Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, et al. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain. Arch Bronconeumol. 2022;58(1):22-29. doi:10.1016/j.arbres.2021.06.001.
Gundogdu P, Loucera C, Alamo-Alvarez I, Dopazo J, Nepomuceno I. Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data. BioData Min. 2022;15(1):1. doi:10.1186/s13040-021-00285-4.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Ortiz-Aljaro P, Montes-Cano MAntonio, García-Lozano J-R, et al. Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus. Sci Rep. 2022;12(1):11219. doi:10.1038/s41598-022-15549-0.
Olivares-González L, Velasco S, Gallego I, et al. An SPM-Enriched Marine Oil Supplement Shifted Microglia Polarization toward M2, Ameliorating Retinal Degeneration in Mice. Antioxidants (Basel). 2022;12(1). doi:10.3390/antiox12010098.
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.
2021
Martorell-Marugán J, López-Domínguez R, García-Moreno A, et al. A comprehensive database for integrated analysis of omics data in autoimmune diseases. BMC Bioinformatics. 2021;22(1):343. doi:10.1186/s12859-021-04268-4.
Ostaszewski M, Niarakis A, Mazein A, et al. COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms. Mol Syst Biol. 2021;17(10):e10387. doi:10.15252/msb.202110387.
Peña-Chilet M, Roldán G, Perez-Florido J, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021;49(D1):D1130-D1137. doi:10.1093/nar/gkaa794.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Carbonell-Caballero J, López-Quílez A, Conesa D, Dopazo J. Deciphering Genomic Heterogeneity and the Internal Composition of Tumour Activities through a Hierarchical Factorisation Model. Mathematics. 2021;9(21):2833. doi:10.3390/math9212833.
Moura DS, Peña-Chilet M, Varela JAntonio Co, et al. A DNA damage repair gene-associated signature predicts responses of patients with advanced soft-tissue sarcoma to treatment with trabectedin. Mol Oncol. 2021;15(12):3691-3705. doi:10.1002/1878-0261.12996.
Walsh I, Fishman D, Garcia-Gasulla D, et al. DOME: recommendations for supervised machine learning validation in biology. Nat Methods. 2021;18(10):1122-1127. doi:10.1038/s41592-021-01205-4.
Rian K, Hidalgo MR, Cubuk C, et al. Genome-scale mechanistic modeling of signaling pathways made easy: A bioconductor/cytoscape/web server framework for the analysis of omic data. Computational and Structural Biotechnology Journal. 2021;19:2968 - 2978. doi:10.1016/j.csbj.2021.05.022.
Villalba-Benito L, López-López D, Torroglosa A, et al. Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system developmentAbstractBackgroundResultsConclusionsGraphic abstract. Clinical Epigenetics. 2021;13(1). doi:10.1186/s13148-021-01040-6.
Ortuno FM, Loucera C, Casimiro-Soriguer CS, et al. Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. Gigascience. 2021;10(12). doi:10.1093/gigascience/giab078.