|
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: 5.5
|
38007062
|
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinoe E, Bockelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A. Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia. J Thromb Haemost. 2024 Apr;22(4):1179-1186. doi: 10.1016/j.jtha.2023.12.007. Epub 2023 Dec 15. PubMed PMID: 38103735.
AÑO: 2024; IF: 5.5
|
|
Teruel-Montoya R, Rivera J, Lozano ML. The importance of genetic variant cleaners: From patient to wet lab and back to clinical practice. Br J Haematol. 2024 Dec;205(6):2122-2124. doi: 10.1111/bjh.19818. Epub 2024 Oct 7. PubMed PMID: 39375956.
AÑO: 2024; IF: 5.1
|
|
Martinez-Navajas G, Ceron-Hernandez J, Simon I, Lupianez P, Diaz-McLynn S, Perales S, Modlich U, Guerrero JA, Martin F, Sevivas T, Lozano ML, Rivera J, Ramos-Mejia V, Tersteeg C, Real PJ. Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C. Mol Ther Nucleic Acids. 2023 Jun 12;33:75-92. doi: 10.1016/j.omtn.2023.06.008. eCollection 2023 Sep 12. PubMed PMID: 37416759; PubMed Central PMCID: PMC10320622.
AÑO: 2023; IF: 6.5
|
|
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
|