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2025
Méndez-Vidal C, Bravo-Gil N, Perez-Florido J, et al. A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice. J Transl Med. 2025;23(1):86. doi:10.1186/s12967-025-06069-2.
Martínez-Nava GAngélica, Altamirano-Molina E, Vázquez-Mellado J, et al. Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans. Sci Rep. 2025;15(1):9981. doi:10.1038/s41598-025-93899-1.
Greene D, De Wispelaere K, Lees J, et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nature Genetics. 2025. doi:10.1038/s41588-025-02159-5.
2024
Loucera-Muñecas C, Canal-Rivero M, Ruiz-Veguilla M, et al. Aripiprazole as protector against COVID-19 mortality. Sci Rep. 2024;14(1):12362. doi:10.1038/s41598-024-60297-y.
Maillo A, Huergo E, Apellániz-Ruiz M, et al. Characterization of the Common Genetic Variation in the Spanish Population of Navarre. Genes (Basel). 2024;15(5). doi:10.3390/genes15050585.
Esteban-Medina M, Roque VManuel de, Herráiz-Gil S, Peña-Chilet M, Dopazo J, Loucera C. drexml: A command line tool and Python package for drug repurposing. Comput Struct Biotechnol J. 2024;23:1129-1143. doi:10.1016/j.csbj.2024.02.027.
Niarakis A, Ostaszewski M, Mazein A, et al. Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches. Front Immunol. 2024;14:1282859. doi:10.3389/fimmu.2023.1282859.
Fernández-Palacios P, Galán-Sánchez F, Casimiro-Soriguer CS, et al. Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain. Microbiol Spectr. 2024;12(10):e0102824. doi:10.1128/spectrum.01028-24.
Moura DS, Mondaza-Hernandez JL, Sanchez-Bustos P, et al. HMGA1 regulates trabectedin sensitivity in advanced soft-tissue sarcoma (STS): A Spanish Group for Research on Sarcomas (GEIS) study. Cell Mol Life Sci. 2024;81(1):219. doi:10.1007/s00018-024-05250-y.
Mavillard F, Perez-Florido J, Ortuno FM, et al. The Iberian Roma Population Variant Server (IRPVS). J Genet Genomics. 2024. doi:10.1016/j.jgg.2024.03.006.
Casimiro-Soriguer CS, Perez-Florido J, Robles EA, et al. The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic. Sci Rep. 2024;14(1):19200. doi:10.1038/s41598-024-70107-0.
Esteban-Medina M, Loucera C, Rian K, et al. The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery. J Transl Med. 2024;22(1):139. doi:10.1186/s12967-024-04911-7.
Casimiro-Soriguer CS, Perez-Florido J, Lara M, et al. Molecular and phylogenetic characterization of the monkeypox outbreak in the South of Spain. Health Sci Rep. 2024;7(3):e1965. doi:10.1002/hsr2.1965.
Pérez-Gutiérrez AM, Carmona R, Loucera C, et al. Mutational landscape of risk variants in comorbid depression and obesity: a next-generation sequencing approach. Mol Psychiatry. 2024. doi:10.1038/s41380-024-02609-2.
Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, et al. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene. Cells. 2024;13(6). doi:10.3390/cells13060524.
Moura DS, López DLópez, di Lernia D, et al. Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.
2023
Blasco L, López-Hernández I, Rodríguez-Fernández M, Perez-Florido J, Casimiro-Soriguer CS. Case report: Analysis of phage therapy failure in a patient with a Pseudomonas aeruginosa prosthetic vascular graft infection. Front Med (Lausanne). 2023;10:1199657. doi:10.3389/fmed.2023.1199657.
Gundogdu P, Payá-Milans M, Alamo-Alvarez I, Nepomuceno-Chamorro IA, Dopazo J, Loucera C. Cell-Level Pathway Scoring Comparison with a Biologically Constrained Variational Autoencoder. Cham: Springer Nature Switzerland; 2023:62 - 77. doi:10.1007/978-3-031-42697-110.1007/978-3-031-42697-1_5.
Núñez-Torres R, Pita G, Peña-Chilet M, et al. A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact. Pharmaceutics. 2023;15(4). doi:10.3390/pharmaceutics15041286.
Cubuk C, Loucera C, Peña-Chilet M, Dopazo J. Crosstalk between Metabolite Production and Signaling Activity in Breast Cancer. Int J Mol Sci. 2023;24(8). doi:10.3390/ijms24087450.
López-López D, Roldán G, Fernandez-Rueda JL, et al. A crowdsourcing database for the copy-number variation of the Spanish population. Hum Genomics. 2023;17(1):20. doi:10.1186/s40246-023-00466-8.
Pellegrinelli V, Figueroa-Juárez E, Samuelson I, et al. Defective extracellular matrix remodeling in brown adipose tissue is associated with fibro-inflammation and reduced diet-induced thermogenesis. Cell Rep. 2023;42(6):112640. doi:10.1016/j.celrep.2023.112640.
Perez-Florido J, Casimiro-Soriguer CS, Ortuno F, et al. Detection of High Level of Co-Infection and the Emergence of Novel SARS CoV-2 Delta-Omicron and Omicron-Omicron Recombinants in the Epidemiological Surveillance of Andalusia. Int J Mol Sci. 2023;24(3). doi:10.3390/ijms24032419.
Łabaj PP, Dopazo J, Xiao W, Kreil DP. Editorial: Critical assessment of massive data analysis (CAMDA) annual conference 2021. Front Genet. 2023;14:1154398. doi:10.3389/fgene.2023.1154398.
Chaves-Blanco L, de Salazar A, Fuentes A, et al. Evaluation of a combined detection of SARS-CoV-2 and its variants using real-time allele-specific PCR strategy: an advantage for clinical practice. Epidemiol Infect. 2023;151:e201. doi:10.1017/S095026882300184X.