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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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36395340
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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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Zaninetti C, Leinoe E, Lozano ML, Rossing M, Bastida JM, Zetterberg E, Rivera J, Greinacher A. Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders. J Thromb Haemost. 2023 Apr;21(4):1010-1019. doi: 10.1016/j.jtha.2022.12.031. Epub 2023 Jan 10. PubMed PMID: 36732160.
AÑO: 2023; IF: 5.5
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Marin-Quilez A, Vuelta E, Diaz-Ajenjo L, Fernandez-Infante C, Garcia-Tunon I, Benito R, Palma-Barqueros V, Hernandez-Rivas JM, Gonzalez-Porras JR, Rivera J, Bastida JM. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling. J Thromb Haemost. 2022 May;20(5):1248-1255. doi: 10.1111/jth.15672. Epub 2022 Feb 28. PubMed PMID: 35170221; PubMed Central PMCID: PMC9306899.
AÑO: 2022; IF: 10.4
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