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Page 1
Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
Fernández-Suárez E, González-Del Pozo M, Méndez-Vidal C, Martín-Sánchez M, Mena M, de la Morena-Barrio B, Corral J, Borrego S, Antiñolo G. Fernández-Suárez E, et al. Among authors: de la morena barrio b. Mob DNA. 2024 May 4;15(1):9. doi: 10.1186/s13100-024-00320-1. Mob DNA. 2024. PMID: 38704576 Free PMC article.
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology.
Bravo-Perez C, Cifuentes-Riquelme R, Padilla J, de la Morena-Barrio ME, Ortuño FJ, Garrido-Rodríguez P, Amigo ML, Heras I, Vicente V, Lozano ML, Teruel-Montoya R, de la Morena-Barrio B, Corral J. Bravo-Perez C, et al. Among authors: de la morena barrio b. J Cell Mol Med. 2024 Feb;28(3):e17961. doi: 10.1111/jcmm.17961. Epub 2024 Jan 23. J Cell Mol Med. 2024. PMID: 38260950 Free PMC article. No abstract available.
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders.
Zamora-Cánovas A, de la Morena-Barrio B, Marín-Quilez A, Sierra-Aisa C, Male C, Fernández-Mosteirin N, Trapero-Marugán M, Padilla J, Garrido-Rodriguez P, Sánchez-Fuentes A, Rodríguez-Alen A, Gómez-González PL, Revilla N, de la Morena-Barrio ME, Bastida JM, Corral J, Rivera J, Lozano ML. Zamora-Cánovas A, et al. Among authors: de la morena barrio b. J Thromb Haemost. 2024 Mar;22(3):851-859. doi: 10.1016/j.jtha.2023.11.007. Epub 2023 Nov 24. J Thromb Haemost. 2024. PMID: 38007062
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Weronska A, De la Morena-Barrio B, Goldman-Mazur S, De la Morena-Barrio ME, Padilla J, Miñano A, Garrido P, Treliński J, Potaczek DP, Szczepanek A, Undas A, Corral J, Wypasek E. Weronska A, et al. Among authors: de la morena barrio b. Haematologica. 2023 Oct 1;108(10):2803-2807. doi: 10.3324/haematol.2022.282459. Haematologica. 2023. PMID: 37021543 Free PMC article. No abstract available.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
de la Morena-Barrio B, Palomo Á, Padilla J, Martín-Fernández L, Rojo-Carrillo JJ, Cifuentes R, Bravo-Pérez C, Garrido-Rodríguez P, Miñano A, Rubio AM, Pagán J, Llamas M, Vicente V, Vidal F, Lozano ML, Corral J, de la Morena-Barrio ME. de la Morena-Barrio B, et al. J Thromb Haemost. 2023 Jul;21(7):1779-1788. doi: 10.1016/j.jtha.2023.03.009. Epub 2023 Mar 20. J Thromb Haemost. 2023. PMID: 36940803
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C, Toderici M, Chambers JE, Martínez-Menárguez JA, Garrido-Rodriguez P, Pérez-Sanchez H, de la Morena-Barrio B, Padilla J, Miñano A, Cifuentes-Riquelme R, Vicente V, Lozano ML, Marciniak SJ, de la Morena-Barrio ME, Corral J. Bravo-Pérez C, et al. Among authors: de la morena barrio b. JCI Insight. 2022 Oct 10;7(19):e161430. doi: 10.1172/jci.insight.161430. JCI Insight. 2022. PMID: 36214221 Free PMC article.
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
de la Morena-Barrio B, Stephens J, de la Morena-Barrio ME, Stefanucci L, Padilla J, Miñano A, Gleadall N, García JL, López-Fernández MF, Morange PE, Puurunen M, Undas A, Vidal F, Raymond FL, Vicente V, Ouwehand WH, Corral J, Sanchis-Juan A; NIHR BioResource. de la Morena-Barrio B, et al. Thromb Haemost. 2022 Aug;122(8):1369-1378. doi: 10.1055/s-0042-1749345. Epub 2022 Jun 28. Thromb Haemost. 2022. PMID: 35764313 Free PMC article.
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J. de la Morena-Barrio ME, et al. Among authors: de la morena barrio b. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. Blood. 2022. PMID: 35486842 Free PMC article.
26 results