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Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE. Park DJ, et al. Among authors: bell r. Cancer Discov. 2014 Jul;4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. Epub 2014 May 2. Cancer Discov. 2014. PMID: 25050558 Free PMC article.
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ. Pope BJ, et al. Among authors: bell r. BMC Bioinformatics. 2013 Feb 25;14:65. doi: 10.1186/1471-2105-14-65. BMC Bioinformatics. 2013. PMID: 23441864 Free PMC article.
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV. Thompson BA, et al. Among authors: bell r. Hum Mutat. 2013 Jan;34(1):255-65. doi: 10.1002/humu.22214. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 22949387 Free PMC article.
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV. Young EL, et al. Among authors: bell r. BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5. BMC Cancer. 2018. PMID: 29945567 Free PMC article.
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian SV. Cannon-Albright LA, et al. Among authors: bell r. Mol Genet Genomic Med. 2020 Dec;8(12):e1532. doi: 10.1002/mgg3.1532. Epub 2020 Oct 29. Mol Genet Genomic Med. 2020. PMID: 33118316 Free PMC article.
Safety and immunogenicity of mRNA-1345 RSV vaccine coadministered with an influenza or COVID-19 vaccine in adults aged 50 years or older: an observer-blinded, placebo-controlled, randomised, phase 3 trial.
Goswami J, Cardona JF, Hsu DC, Simorellis AK, Wilson L, Dhar R, Tomassini JE, Wang X, Kapoor A, Collins A, Righi V, Lan L, Du J, Zhou H, Stoszek SK, Shaw CA, Reuter C, Wilson E, Miller JM, Das R; study investigators. Goswami J, et al. Lancet Infect Dis. 2024 Nov 25:S1473-3099(24)00589-9. doi: 10.1016/S1473-3099(24)00589-9. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39608389
4,920 results