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Kruijt M, de la Morena-Barrio ME, Corral J, Cobbaert CM, Ruhaak LR. Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics. J Thromb Haemost. 2025 Jan;23(1):210-221. doi: 10.1016/j.jtha.2024.10.005. Epub 2024 Oct 17. PubMed PMID: 39423957.
AÑO: 2025; IF: 5.5
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39423957
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Morales ML, Cano H, de la Morena-Barrio B, Vives-Corrons JL, Cuenca-Zamora EJ, Garrido-Rodriguez P, Bento C, Pereira J, Martinez Nieto J, Chen-Liang TH, Fuster JL, Caracena S, Lozano ML, Teruel-Montoya R, Corral J, Ferrer-Marin F. CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier. Blood Cancer J. 2025 Feb 1;15(1):8. doi: 10.1038/s41408-025-01216-w. No abstract available. PubMed PMID: 39893164; PubMed Central PMCID: PMC11787284.
AÑO: 2025; IF: 12.9
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Fernandez-Suarez E, Gonzalez-Del Pozo M, Mendez-Vidal C, Martin-Sanchez M, Mena M, de la Morena-Barrio B, Corral J, Borrego S, Antinolo G. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene. Mob DNA. 2024 May 4;15(1):9. doi: 10.1186/s13100-024-00320-1. PubMed PMID: 38704576; PubMed Central PMCID: PMC11069205.
AÑO: 2024; IF: 4.7
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Klajmon A, Natorska J, Corral J, de la Morena-Barrio ME, Bravo-Perez C, Kopytek M, Jankowska U, Skupien-Rabian B, Hanarz M, Trelinski J, Zabczyk M. Reduced Plasma Selenoprotein P Is Associated With Type I Antithrombin Deficiency and a Prothrombotic State. Arch Pathol Lab Med. 2024 Sep 13. doi: 10.5858/arpa.2024-0162-OA. Online ahead of print. PubMed PMID: 39265995.
AÑO: 2024; IF: 3.7
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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: 5.5
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