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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.\par \par Luque J, Mendes I, G\'f3mez 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.\par \par Cruz R, de Almeida SDiz-, Heredia ML\'f3pez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.\par \par Pe\'f1a-Chilet M, Rold\'e1n 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.\par \par Tenorio-Casta\'f1o 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.\par \par Maro\'f1as O, Latorre A, Dopazo J, et al. Progress in pharmacogenetics: consortiums and new strategies. Drug Metab Pers Ther. 2016;31(1):17-23. doi:10.1515/dmpt-2015-0039.\par \par Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome: Transcriptional profiling of acute coronary syndrome. Clinica chimica acta; international journal of clinical chemistry. 2013. doi:10.1016/j.cca.2013.03.011.\par \par Silbiger VN, Luchessi AD, Hirata RDC, et al. Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome. Clin Chim Acta. 2013;421:184-90. doi:10.1016/j.cca.2013.03.011.\par \par Silbiger V, Luchessi A, Hirata R, et al. Peripheral blood cells transcriptome to study new biomarkers for myocardial infarction follow up. In: ; 2009.\par \par }