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Page 1
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: boucher k. 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.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost M, Tiersma Y, Glubb D, Kathe S, van Hees S, Calléja F, Zonneveld JBM, Boucher KM, Ramlal RPE, Thompson BA, Rasmussen LJ, Greenblatt MS, Lee A, Spurdle AB, Tavtigian SV, de Wind N. Drost M, et al. Genet Med. 2020 May;22(5):847-856. doi: 10.1038/s41436-019-0736-2. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965077 Free PMC article.
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV. Clark KA, et al. Among authors: boucher km. Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004. Am J Hum Genet. 2022. PMID: 35659930 Free PMC article.
Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome.
Samadder NJ, Smith KR, Wong J, Thomas A, Hanson H, Boucher K, Kopituch C, Cannon-Albright LA, Burt RW, Curtin K. Samadder NJ, et al. Among authors: boucher k. JAMA Oncol. 2017 Dec 1;3(12):1697-1701. doi: 10.1001/jamaoncol.2017.0769. JAMA Oncol. 2017. PMID: 28772302 Free PMC article.
Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial.
Samadder NJ, Kuwada SK, Boucher KM, Byrne K, Kanth P, Samowitz W, Jones D, Tavtigian SV, Westover M, Berry T, Jasperson K, Pappas L, Smith L, Sample D, Burt RW, Neklason DW. Samadder NJ, et al. Among authors: boucher km. JAMA Oncol. 2018 May 1;4(5):671-677. doi: 10.1001/jamaoncol.2017.5431. JAMA Oncol. 2018. PMID: 29423501 Free PMC article. Clinical Trial.
281 results