Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Submitted by jdopazo on Thu, 04/10/2025 - 19:32 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.
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice. Submitted by jdopazo on Sun, 03/30/2025 - 12:30 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.
Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans. Submitted by jdopazo on Tue, 03/25/2025 - 19:23 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.
Characterization of the Common Genetic Variation in the Spanish Population of Navarre. Submitted by jdopazo on Fri, 10/11/2024 - 17:09 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.
Mutational landscape of risk variants in comorbid depression and obesity: a next-generation sequencing approach. Submitted by jdopazo on Fri, 10/11/2024 - 17:08 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.
Aripiprazole as protector against COVID-19 mortality. Submitted by jdopazo on Fri, 10/11/2024 - 17:07 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.
The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic. Submitted by jdopazo on Fri, 10/11/2024 - 17:06 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.
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). Submitted by jdopazo on Fri, 10/11/2024 - 17:05 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.
Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain. Submitted by jdopazo on Fri, 10/11/2024 - 17:04 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.
drexml: A command line tool and Python package for drug repurposing. Submitted by jdopazo on Tue, 05/21/2024 - 18:22 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.
