María Eugenia De la Morena Barrio

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

35218943

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

35486842

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

35998169

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

35764313

Palma-Barqueros V, Crescente M, de la Morena ME, Chan MV, Almarza E, Revilla N, Bohdan N, Miñano A, Padilla J, Allan HE, Maffucci T, Edin ML, Zeldin DC, Mesa-Nuñez C, Damian C, Marín-Quilez A, Benito R, Martínez-Martínez I, Bermejo N, Casas-Aviles I, Rodríguez-Alen A, González-Porras JR, Hernández-Rivas JM, Vicente V, Corral J, Lozano ML, Warner TD, Bastida JM, Rivera J. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis. Am J Hematol. 2021 Mar 1;96(3):E83-E88. doi: 10.1002/ajh.26076. Epub 2021 Jan 5. PubMed PMID: 33326144.

AÑO: 2021; IF: 13.265

33326144