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Page 1
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou T, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Gallon R, et al. Among authors: rueda d. Gastroenterology. 2023 Apr;164(4):579-592.e8. doi: 10.1053/j.gastro.2022.12.017. Epub 2022 Dec 29. Gastroenterology. 2023. PMID: 36586540 Free article.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Among authors: rueda d. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
Case Report: Ambergris coprolite and septicemia in a male sperm whale stranded in La Palma (Canary Islands).
Fernández A, Suárez-Santana C, Alonso-Almorox P, Consoli FA, Suárez González Z, Molpeceres-Diego I, Iglesias González C, Hernández ML, Pérez AH, Martín-Barrasa JL, Llorente LI, Medina FM, Guzmán RG, Rueda DL, Arbelo M, Sierra E. Fernández A, et al. Among authors: rueda dl. Front Vet Sci. 2024 Apr 8;11:1388276. doi: 10.3389/fvets.2024.1388276. eCollection 2024. Front Vet Sci. 2024. PMID: 38650849 Free PMC article.
Molecular and Pathological Characterization of Classical Swine Fever Virus Genotype 2 Strains Responsible for the 2013-2018 Outbreak in Colombia.
Robert E, Goonewardene K, Lamboo L, Perez O, Goolia M, Lewis C, Erdelyan CNG, Lung O, Handel K, Moffat E, Embury-Hyatt C, Amaya NN, Parra CPC, Rueda DCG, Monroy MAR, Clavijo A, Ambagala A. Robert E, et al. Among authors: rueda dcg. Viruses. 2023 Nov 24;15(12):2308. doi: 10.3390/v15122308. Viruses. 2023. PMID: 38140549 Free PMC article.
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Porras LM, Padilla N, Moles-Fernández A, Feliubadaló L, Santamariña-Pena M, Sánchez AT, López-Novo A, Blanco A, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lázaro C, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Porras LM, et al. Among authors: rueda d. J Mol Diagn. 2024 Jan;26(1):17-28. doi: 10.1016/j.jmoldx.2023.09.009. Epub 2023 Oct 19. J Mol Diagn. 2024. PMID: 37865290 Free article.
Negative DNA supercoiling induces genome-wide Cas9 off-target activity.
Newton MD, Losito M, Smith QM, Parnandi N, Taylor BJ, Akcakaya P, Maresca M, van Eijk P, Reed SH, Boulton SJ, King GA, Cuomo ME, Rueda DS. Newton MD, et al. Among authors: rueda ds. Mol Cell. 2023 Oct 5;83(19):3533-3545.e5. doi: 10.1016/j.molcel.2023.09.008. Mol Cell. 2023. PMID: 37802026 Free article.
A new twist on PIFE: photoisomerisation-related fluorescence enhancement.
Ploetz E, Ambrose B, Barth A, Börner R, Erichson F, Kapanidis AN, Kim HD, Levitus M, Lohman TM, Mazumder A, Rueda DS, Steffen FD, Cordes T, Magennis SW, Lerner E. Ploetz E, et al. Among authors: rueda ds. Methods Appl Fluoresc. 2023 Oct 12;12(1):012001. doi: 10.1088/2050-6120/acfb58. Methods Appl Fluoresc. 2023. PMID: 37726007 Free PMC article. Review.
233 results