ANA MARIN QUILEZ

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 Feb 1:S1538-7836(23)00072-7. doi: 10.1016/j.jtha.2023.01.023. Online ahead of print. PubMed PMID: 36736831.

AÑO: 2023; IF: 10.4

36736831

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: 3.3

36846897

Marin-Quilez A, Diaz-Ajenjo L, Di Buduo CA, Zamora-Canovas A, Lozano ML, Benito R, Gonzalez-Porras JR, Balduini A, Rivera J, Bastida JM. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation. Int J Mol Sci. 2023 Mar 7;24(6):5109. doi: 10.3390/ijms24065109. PubMed PMID: 36982178; PubMed Central PMCID: PMC10049517.

AÑO: 2023; IF: 5.6

36982178

Zamora-Canovas A, 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. 2023 Nov 23:S1538-7836(23)00844-9. doi: 10.1016/j.jtha.2023.11.007. Online ahead of print. PubMed PMID: 38007062.

AÑO: 2023; IF: 10.4

38007062

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: 20.3

36395340