|
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
|
36940803
|
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
|
|
Cuenca-Guardiola J, de la Morena-Barrio B, Garcia JL, Sanchis-Juan A, Corral J, Fernandez-Breis JT. Improvement of large copy number variant detection by whole genome nanopore sequencing. J Adv Res. 2023 Aug;50:145-158. doi: 10.1016/j.jare.2022.10.012. Epub 2022 Oct 30. PubMed PMID: 36323370; PubMed Central PMCID: PMC10403694.
AÑO: 2023; IF: 11.4
|
|
Bravo-Perez C, de la Morena-Barrio ME, de la Morena-Barrio B, Minano A, Padilla J, Cifuentes R, Garrido P, Vicente V, Corral J. Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia. Am J Hematol. 2022 Feb 1;97(2):216-225. doi: 10.1002/ajh.26413. Epub 2021 Nov 24. PubMed PMID: 34800304.
AÑO: 2022; IF: 12.8
|
|
Nowak W, Trelinski J, Wypasek E, de la Morena-Barrio B, de la Morena-Barrio ME, Corral J. New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV. Pol Arch Intern Med. 2022 Jan 28;132(1):16158. doi: 10.20452/pamw.16158. Epub 2021 Dec 1. No abstract available. PubMed PMID: 34851072.
AÑO: 2022; IF: 4.8
|