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Diaz-Ajenjo L, Marin-Quilez A, Lama-Villanueva A, Garcia-Jaen P, Rey-Bua B, Hernandez-Rivas JM, Morgan NV, Gonzalez-Porras JR, Benito R, Rivera J, Bastida JM. A novel homozygous splice-site variant in VPS33B identified as a cause of bleeding. J Thromb Haemost. 2026 Jan;24(1):146-154. doi: 10.1016/j.jtha.2025.09.036. Epub 2025 Oct 23. PubMed PMID: 41138802.
AÑO: 2026; IF: 5.0
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41138802
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Zamora-Canovas A, de la Morena-Barrio B, Marin-Quilez A, Sierra-Aisa C, Male C, Fernandez-Mosteirin N, Trapero-Marugan M, Padilla J, Garrido-Rodriguez P, Sanchez-Fuentes A, Rodriguez-Alen A, Gomez-Gonzalez PL, Revilla N, de la Morena-Barrio ME, Bastida JM, Corral J, Rivera J, Lozano ML. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders. J Thromb Haemost. 2024 Mar;22(3):851-859. doi: 10.1016/j.jtha.2023.11.007. Epub 2023 Nov 24. PubMed PMID: 38007062.
AÑO: 2024; IF: 5.0
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Marin-Quilez A, Di Buduo CA, Diaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-Garcia C, Santos-Minguez S, Serramito-Gomez I, Ruiz-Sala P, Penarrubia MJ, Pardal E, Hernandez-Rivas JM, Gonzalez-Porras JR, Garcia-Tunon I, Benito R, Rivera J, Balduini A, Bastida JM. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995. PubMed PMID: 36395340; PubMed Central PMCID: PMC10644051.
AÑO: 2023; IF: 21.0
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Palma-Barqueros V, Bastida JM, Lopez Andreo MJ, Zamora-Canovas A, Zaninetti C, Ruiz-Pividal JF, Bohdan N, Padilla J, Teruel-Montoya R, Marin-Quilez A, Revilla N, Sanchez-Fuentes A, Rodriguez-Alen A, Benito R, Vicente V, Iturbe T, Greinacher A, Lozano ML, Rivera J; Grupo Espanol de Alteraciones Plaquetarias Congenitas (GEAPC); Spanish Society of Thrombosis and Haemostasis (SETH). Platelet transcriptome analysis in patients with germline RUNX1 mutations. J Thromb Haemost. 2023 May;21(5):1352-1365. doi: 10.1016/j.jtha.2023.01.023. Epub 2023 Feb 1. PubMed PMID: 36736831.
AÑO: 2023; IF: 5.5
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Marin-Quilez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets. 2023 Dec;34(1):2176699. doi: 10.1080/09537104.2023.2176699. Epub 2023 Feb 27. PubMed PMID: 36846897.
AÑO: 2023; IF: 2.5
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