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394 results

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CSVS, a crowdsourcing database of the Spanish population genetic variability.
Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B; Spanish Exome Crowdsourcing Consortium; Carracedo Á, Alonso Á, Dopazo J. Peña-Chilet M, et al. Among authors: carmona r. Nucleic Acids Res. 2021 Jan 8;49(D1):D1130-D1137. doi: 10.1093/nar/gkaa794. Nucleic Acids Res. 2021. PMID: 32990755 Free PMC article.
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.
Vázquez-Costa JF, Payá-Montes M, Martínez-Molina M, Jaijo T, Szymanski J, Mazón M, Sopena-Novales P; ENoD Consortium; Pérez-Tur J, Sevilla T. Vázquez-Costa JF, et al. Front Mol Neurosci. 2021 Aug 30;14:721047. doi: 10.3389/fnmol.2021.721047. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34526879 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival.
Loucera C, Perez-Florido J, Casimiro-Soriguer CS, Ortuño FM, Carmona R, Bostelmann G, Martínez-González LJ, Muñoyerro-Muñiz D, Villegas R, Rodriguez-Baño J, Romero-Gomez M, Lorusso N, Garcia-León J, Navarro-Marí JM, Camacho-Martinez P, Merino-Diaz L, Salazar A, Viñuela L, The Andalusian Covid-Sequencing Initiative, Lepe JA, Garcia F, Dopazo J. Loucera C, et al. Among authors: carmona r. Viruses. 2022 Aug 27;14(9):1893. doi: 10.3390/v14091893. Viruses. 2022. PMID: 36146700 Free PMC article.
A crowdsourcing database for the copy-number variation of the Spanish population.
López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A; CSVS Crowdsourcing Group; Peña-Chilet M, Dopazo J. López-López D, et al. Among authors: carmona r. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. Hum Genomics. 2023. PMID: 36894999 Free PMC article.
Evidence of the association between increased use of direct oral anticoagulants and a reduction in the rate of atrial fibrillation-related stroke and major bleeding at the population level (2012-2019).
Loucera C, Carmona R, Bostelmann G, Muñoyerro-Muñiz D, Villegas R, Gonzalez-Manzanares R, Dopazo J, Anguita M. Loucera C, et al. Among authors: carmona r. Med Clin (Barc). 2024 Mar 8;162(5):220-227. doi: 10.1016/j.medcli.2023.10.008. Epub 2023 Nov 20. Med Clin (Barc). 2024. PMID: 37989706 English, Spanish.
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F, Perez-Florido J, Ortuño FM, Valladares A, Álvarez-Villegas ML, Roldán G, Carmona R, Soriano M, Susarte S, Fuentes P, López-López D, Nuñez-Negrillo AM, Carvajal A, Morgado Y, Arteaga D, Ufano R, Mir P, Gamella JF, Dopazo J, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: carmona r. J Genet Genomics. 2024 Mar 26:S1673-8527(24)00059-6. doi: 10.1016/j.jgg.2024.03.006. Online ahead of print. J Genet Genomics. 2024. PMID: 38548101 No abstract available.
394 results