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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 34 -. 31 dic 2023. 1 feb 2023. . F.I.:2,500 [doi:10.1080/09537104.2023.2176699]

Pardos-Gea, J, Martin-Fernandez, L, Closa, L, Ferrero, A, Marzo, C, Rubio-Rivas, M, Mitjavila, F, González-Porras, JR, Bastida, JM, Mateo, J, Carrasco, M, Bernardo, A, Astigarraga, I, Aguinaco, R, Corrales, I, Garcia-Martínez, I, Vidal, F. Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing. INT J MOL SCI 24 -. 1 nov 2023. . . F.I.:4,900 [doi:10.3390/ijms242216372]

Palma-Barqueros, V, Bastida, JM, Andreo, MJL, Zámora-Cánovas, A, Zaninetti, C, Ruiz-Pividal, JF, Bohdan, N, Padilla, J, Teruel-Montoya, R, Marín-Quilez, A, Revilla, N, Sánchez-Fuentes, A, Rodriguez-Alen, A, Benito, R, Vicente, V, Iturbe, T, Greinacher, A, Lozano, ML, Rivera, J. Platelet transcriptome analysis in patients with germline RUNX1 mutations. J THROMB HAEMOST 21 1352-1365. 1 may 2023. . . F.I.:5,500 [doi:10.1016/j.jtha.2023.01.023]

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 24 -. 1 mar 2023. . . F.I.:4,900 [doi:10.3390/ijms24065109]

Rodriguez-Blazquez, A, Carabias, A, Moran-Vaquero, A, de Cima, S, Luque-Ortega, JR, Alfonso, C, Schuck, P, Manso, JA, Macedo-Ribeiro, S, Guerrero, C, de Pereda, JM. Crk proteins activate the Rap1 guanine nucleotide exchange factor C3G by segregated adaptor-dependent and -independent mechanisms. CELL COMMUN SIGNAL 21 -. 3 feb 2023. . . F.I.:8,200 [doi:10.1186/s12964-023-01042-2]

Marin-Quilez, Ana, Di Buduo, Christian Andrea, Diaz-Ajenjo, Lorena, Abbonante, Vittorio, Vuelta, Elena, Soprano, Paolo Maria, Miguel-Garcia, Cristina, Santos-Minguez, Sandra, Serramito-Gomez, Inmaculada, Ruiz-Sala, Pedro, Penarrubia, Maria Jesus, Pardal, Emilia, Hernandez-Rivas, Jesus Maria, Gonzalez-Porras, Jose Ramon, Garcia-Tunon, Ignacio, Benito, Rocio, Rivera, Jose, Balduini, Alessandra, Bastida, Jose Maria. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.. BLOOD 141 406-421. 26 ene 2023. 1 ene 2023. . F.I.:21,000 [doi:10.1182/blood.2022016995]