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de la Morena-Barrio B, Palomo A, Padilla J, Martin-Fernandez L, Rojo-Carrillo JJ, Cifuentes R, Bravo-Perez C, Garrido-Rodriguez P, Minano A, Rubio AM, Pagan J, Llamas M, Vicente V, Vidal F, Lozano ML, Corral J, de la Morena-Barrio ME. Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing. J Thromb Haemost. 2023 Jul;21(7):1779-1788. doi: 10.1016/j.jtha.2023.03.009. Epub 2023 Mar 20. PubMed PMID: 36940803.
AÑO: 2023; IF: 5.5
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36940803
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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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Cuenca-Guardiola J, Morena-Barrio B, Navarro-Manzano E, Stevens J, Ouwehand WH, Gleadall NS, Corral J, Fernandez-Breis JT. Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing. iScience. 2023 Oct 14;26(11):108214. doi: 10.1016/j.isci.2023.108214. eCollection 2023 Nov 17. PubMed PMID: 37953943; PubMed Central PMCID: PMC10638045.
AÑO: 2023; IF: 4.6
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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: 4.3
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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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