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Page 1
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, Sutphen R, Pickard-Brzosowicz JL, Nathanson KL, Sali A, Goldgar D, Couch FJ, Radice P, Monteiro AN. Carvalho MA, et al. Among authors: karchin r. Cancer Res. 2007 Feb 15;67(4):1494-501. doi: 10.1158/0008-5472.CAN-06-3297. Cancer Res. 2007. PMID: 17308087 Free PMC article.
Persistent mutation burden drives sustained anti-tumor immune responses.
Niknafs N, Balan A, Cherry C, Hummelink K, Monkhorst K, Shao XM, Belcaid Z, Marrone KA, Murray J, Smith KN, Levy B, Feliciano J, Hann CL, Lam V, Pardoll DM, Karchin R, Seiwert TY, Brahmer JR, Forde PM, Velculescu VE, Anagnostou V. Niknafs N, et al. Among authors: karchin r. Nat Med. 2023 Feb;29(2):440-449. doi: 10.1038/s41591-022-02163-w. Epub 2023 Jan 26. Nat Med. 2023. PMID: 36702947 Free PMC article.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Among authors: karchin r. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B. Carvalho M, et al. Among authors: karchin r. Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17. Mutat Res. 2009. PMID: 18992264 Free PMC article.
Yeast two-hybrid junk sequences contain selected linear motifs.
Liu Y, Woods NT, Kim D, Sweet M, Monteiro AN, Karchin R. Liu Y, et al. Among authors: karchin r. Nucleic Acids Res. 2011 Oct;39(19):e128. doi: 10.1093/nar/gkr600. Epub 2011 Jul 23. Nucleic Acids Res. 2011. PMID: 21785140 Free PMC article.
146 results