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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: walters rj. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN; Colon Cancer Family Registry; Young JP, Buchanan DD, Tavtigian SV, Spurdle AB. Thompson BA, et al. Hum Mutat. 2013 Jan;34(1):200-9. doi: 10.1002/humu.22213. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22949379 Free PMC article.
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA, Walters R, Parsons MT, Dumenil T, Drost M, Tiersma Y, Lindor NM, Tavtigian SV, de Wind N, Spurdle AB; InSiGHT Variant Interpretation Committee. Thompson BA, et al. Front Genet. 2020 Jul 27;11:798. doi: 10.3389/fgene.2020.00798. eCollection 2020. Front Genet. 2020. PMID: 32849802 Free PMC article.
Reply to J. Moline et al.
Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB. Buchanan DD, et al. Among authors: walters rj. J Clin Oncol. 2014 Jul 20;32(21):2278-9. doi: 10.1200/JCO.2014.55.8213. Epub 2014 Jun 9. J Clin Oncol. 2014. PMID: 24912891 No abstract available.
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB. Buchanan DD, et al. Among authors: walters rj. J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9. J Clin Oncol. 2014. PMID: 24323032 Free PMC article.
Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.
Johnatty SE, Tan YY, Buchanan DD, Bowman M, Walters RJ, Obermair A, Quinn MA, Blomfield PB, Brand A, Leung Y, Oehler MK; ANECS Group; Kirk JA, O'Mara TA, Webb PM, Spurdle AB. Johnatty SE, et al. Among authors: walters rj. Gynecol Oncol. 2017 Nov;147(2):381-387. doi: 10.1016/j.ygyno.2017.08.011. Epub 2017 Aug 17. Gynecol Oncol. 2017. PMID: 28822557
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.
Walsh MD, Buchanan DD, Pearson SA, Clendenning M, Jenkins MA, Win AK, Walters RJ, Spring KJ, Nagler B, Pavluk E, Arnold ST, Goldblatt J, George J, Suthers GK, Phillips K, Hopper JL, Jass JR, Baron JA, Ahnen DJ, Thibodeau SN, Lindor N, Parry S, Walker NI, Rosty C, Young JP. Walsh MD, et al. Among authors: walters rj. Mod Pathol. 2012 May;25(5):722-30. doi: 10.1038/modpathol.2011.209. Epub 2012 Feb 10. Mod Pathol. 2012. PMID: 22322191 Free PMC article.
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts.
Buchanan DD, Clendenning M, Rosty C, Eriksen SV, Walsh MD, Walters RJ, Thibodeau SN, Stewart J, Preston S, Win AK, Flander L, Ouakrim DA, Macrae FA, Boussioutas A, Winship IM, Giles GG, Hopper JL, Southey MC, English D, Jenkins MA. Buchanan DD, et al. Among authors: walters rj. J Gastroenterol Hepatol. 2017 Feb;32(2):427-438. doi: 10.1111/jgh.13468. J Gastroenterol Hepatol. 2017. PMID: 27273229 Free PMC article.
89 results