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Ugarteburu O, Farre-Tarrats L, Munoz-Pujol G, Unceta M, Las Heras J, Garcia-Ribes A, Arza-Ruesga A, de la Morena B, Arauz-Garofalo G, Gay M, Garrabou G, Corral J, Vilaseca M, Ribes A, Garcia-Villoria J, Gort L, Tort F. Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome. Mitochondrion. 2026 Jan;86:102095. doi: 10.1016/j.mito.2025.102095. Epub 2025 Nov 5. PubMed PMID: 41203052.
AÑO: 2026; IF: 4.5
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41203052
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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: 11.6
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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: 5.0
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Bravo-Perez C, Cifuentes-Riquelme R, Padilla J, de la Morena-Barrio ME, Ortuno FJ, Garrido-Rodriguez P, Amigo ML, Heras I, Vicente V, Lozano ML, Teruel-Montoya R, de la Morena-Barrio B, Corral J. The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology. J Cell Mol Med. 2024 Feb;28(3):e17961. doi: 10.1111/jcmm.17961. Epub 2024 Jan 23. No abstract available. PubMed PMID: 38260950; PubMed Central PMCID: PMC10844759.
AÑO: 2024; IF: 4.2
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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: 3.1
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