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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.
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.
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.
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches. Front Immunol. 2024;14:1282859. doi:10.3389/fimmu.2023.1282859.
Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches. Front Immunol. 2024;14:1282859. doi:10.3389/fimmu.2023.1282859.
Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain. Microbiol Spectr. 2024;12(10):e0102824. doi:10.1128/spectrum.01028-24.
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.
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.
Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms. Mol Syst Biol. 2021;17(10):e10387. doi:10.15252/msb.202110387.
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.
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.
The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. doi:10.3389/fnmol.2021.721047.
Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Platform to study intracellular polystyrene nanoplastic pollution and clinical outcomes. Stem Cells. 2020;38(10):1321-1325. doi:10.1002/stem.3244.
Using AnABlast for intergenic sORF prediction in the Caenorhabditis elegans genome. Bioinformatics. 2020;36(19):4827-4832. doi:10.1093/bioinformatics/btaa608.
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.