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de la Morena-Barrio B, Orlando C, Sanchis-Juan A, Garcia JL, Padilla J, de la Morena-Barrio ME, Puruunen M, Stouffs K, Cifuentes R, Borras N, Bravo-Perez C, Benito R, Cuenca-Guardiola J, Vicente V, Vidal F, Hernandez-Rivas JM, Ouwehand W, Jochmans K, Corral J. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency. J Mol Diagn. 2022 May;24(5):462-475. doi: 10.1016/j.jmoldx.2022.01.009. Epub 2022 Feb 23. PubMed PMID: 35218943.
AÑO: 2022; IF: 4.1
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35218943
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de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Minano A, de la Morena-Barrio B, Bravo-Perez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Tregouet DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. PubMed PMID: 35486842; PubMed Central PMCID: PMC9283966.
AÑO: 2022; IF: 20.3
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Castell-Diaz J, Abad-Navarro F, de la Morena-Barrio ME, Corral J, Fernandez-Breis JT. Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon. IEEE J Biomed Health Inform. 2022 Nov;26(11):5750-5756. doi: 10.1109/JBHI.2022.3200966. Epub 2022 Nov 10. PubMed PMID: 35998169.
AÑO: 2022; IF: 7.7
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de la Morena-Barrio B, Stephens J, de la Morena-Barrio ME, Stefanucci L, Padilla J, Minano A, Gleadall N, Garcia JL, Lopez-Fernandez MF, Morange PE, Puurunen M, Undas A, Vidal F, Raymond FL, Vicente V, Ouwehand WH, Corral J, Sanchis-Juan A; NIHR BioResource. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency. Thromb Haemost. 2022 Aug;122(8):1369-1378. doi: 10.1055/s-0042-1749345. Epub 2022 Jun 28. PubMed PMID: 35764313; PubMed Central PMCID: PMC9393088.
AÑO: 2022; IF: 6.7
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Cifuentes R, Padilla J, de la Morena-Barrio ME, de la Morena-Barrio B, Bravo-Perez C, Garrido-Rodriguez P, Llamas M, Minano A, Vicente V, Lozano ML, Corral J. Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency. Int J Mol Sci. 2023 Mar 6;24(5):5023. doi: 10.3390/ijms24055023. PubMed PMID: 36902454; PubMed Central PMCID: PMC10002544.
AÑO: 2023; IF: 4.9
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