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Year Number of Results
2002 2
2005 1
2006 1
2007 2
2008 1
2009 1
2010 2
2011 3
2012 5
2013 5
2014 6
2015 7
2016 8
2017 8
2018 9
2019 9
2020 3
2021 4
2022 4
2023 4
2024 2

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72 results

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Page 1
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
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.
Lurbinectedin in patients with pretreated endometrial cancer: results from a phase 2 basket clinical trial and exploratory translational study.
Kristeleit R, Leary A, Delord JP, Moreno V, Oaknin A, Castellano D, Shappiro GI, Fernández C, Kahatt C, Alfaro V, Siguero M, Rueda D, Zeaiter A, Awada A, Santaballa A, Zaman K, Sehouli J, Subbiah V. Kristeleit R, et al. Among authors: rueda d. Invest New Drugs. 2023 Oct;41(5):677-687. doi: 10.1007/s10637-023-01383-2. Epub 2023 Aug 9. Invest New Drugs. 2023. PMID: 37556023 Free PMC article. Clinical Trial.
Amplicon Sequencing Reveals Complex Infection in Infants Congenitally Infected With Trypanosoma Cruzi and Informs the Dynamics of Parasite Transmission.
Hakim JMC, Waltmann A, Tinajeros F, Kharabora O, Machaca EM, Calderon M, Del Carmen Menduiña M, Wang J, Rueda D, Zimic M, Verástegui M, Juliano JJ, Gilman RH, Mugnier MR, Bowman NM; Chagas Working Group. Hakim JMC, et al. Among authors: rueda d. J Infect Dis. 2023 Sep 15;228(6):769-776. doi: 10.1093/infdis/jiad125. J Infect Dis. 2023. PMID: 37119236 Free PMC article.
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.
Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.
Villarroya-Beltri C, Osorio A, Torres-Ruiz R, Gómez-Sánchez D, Trakala M, Sánchez-Belmonte A, Mercadillo F, Hurtado B, Pitarch B, Hernández-Núñez A, Gómez-Caturla A, Rueda D, Perea J, Rodríguez-Perales S, Malumbres M, Urioste M. Villarroya-Beltri C, et al. Among authors: rueda d. Sci Adv. 2022 Nov 4;8(44):eabq5914. doi: 10.1126/sciadv.abq5914. Epub 2022 Nov 2. Sci Adv. 2022. PMID: 36322655 Free PMC article.
Genomic Landscape of Vinflunine Response in Metastatic Urothelial Cancer.
Bernardini A, Dueñas M, Martín-Soberon MC, Rubio C, Suarez-Cabrera C, Ruiz-Palomares R, Munera-Maravilla E, Lázaro S, Lodewijk I, Rueda D, Gómez-Sánchez D, Alonso-Gordoa T, Puente J, Pinto Á, González-Peramato P, Aguado C, Herrera M, López F, Martinez VMG, Morales L, Castellano D, Paramio JM, de Velasco G. Bernardini A, et al. Among authors: rueda d. Cancers (Basel). 2022 Jan 13;14(2):378. doi: 10.3390/cancers14020378. Cancers (Basel). 2022. PMID: 35053540 Free PMC article.
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, Amarante TD, Side L, Brice G, Perez-Alonso V, Rueda D, Gomez C, Bushell W, Harris R, Choudhary JS; Genomics England Research Consortium; Jiricny J, Skarnes WC, Nik-Zainal S. Zou X, et al. Among authors: rueda d. Nat Cancer. 2021 Jun;2(6):643-657. doi: 10.1038/s43018-021-00200-0. Epub 2021 Apr 26. Nat Cancer. 2021. PMID: 34164627 Free PMC article.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group; Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC; Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups; Stoppa-Lyonnet D, Andrieu N. Lesueur F, et al. Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14. Fam Cancer. 2022. PMID: 34125377 Free PMC article. Review.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C. Feliubadaló L, et al. Among authors: rueda d. Clin Chem. 2021 Mar 1;67(3):518-533. doi: 10.1093/clinchem/hvaa250. Clin Chem. 2021. PMID: 33280026 Free article.
72 results