Publications

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2021
Mapping the human genetic architecture of COVID-19. Nature. 2021;600(7889):472-477. doi:10.1038/s41586-021-03767-x.
Rian K, Esteban-Medina M, Hidalgo MR, et al. Mechanistic modeling of the SARS-CoV-2 disease map. BioData Min. 2021;14(1):5. doi:10.1186/s13040-021-00234-1.
Millán-Esteban D, Peña-Chilet M, García-Casado Z, et al. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development. Cancers (Basel). 2021;13(20). doi:10.3390/cancers13205219.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Mammoliti A, Smirnov P, Nakano M, et al. Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.
Casimiro-Soriguer CS, Perez-Florido J, Fernandez-Rueda JL, et al. Phylogenetic Analysis of the 2020 West Nile Virus (WNV) Outbreak in Andalusia (Spain). Viruses. 2021;13(5):836. doi:10.3390/v13050836.
Vázquez-Costa JFrancisco, Payá-Montes M, Martínez-Molina M, et al. Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. doi:10.3389/fnmol.2021.721047.
Loucera C, Peña-Chilet M, Esteban-Medina M, et al. Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients. Sci Rep. 2021;11(1):23380. doi:10.1038/s41598-021-02701-5.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Tenorio-Castaño J, Morte B, Nevado J, et al. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes. 2021;12(5):738. doi:10.3390/genes12050738.
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.
Zhang Z, Hernandez K, Savage J, et al. Uniform genomic data analysis in the NCI Genomic Data CommonsAbstract. Nature Communications. 2021;12(1). doi:10.1038/s41467-021-21254-9.
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.
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.