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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: pope bj. medRxiv [Preprint]. 2023 Mar 1:2023.02.27.23285541. doi: 10.1101/2023.02.27.23285541. medRxiv. 2023. PMID: 36909643 Free PMC article. Updated. Preprint.
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab); Giles GG, Hopper JL; Australian Breast Cancer Family Registry; Southey MC, Park DJ. Nguyen-Dumont T, et al. Among authors: pope bj. BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48. BMC Med Genomics. 2013. PMID: 24206657 Free PMC article.
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC. Nguyen-Dumont T, et al. Among authors: pope bj. Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10. Breast Cancer Res Treat. 2015. PMID: 25575445 Free PMC article.
Abridged adapter primers increase the target scope of Hi-Plex.
Nguyen-Dumont T, Hammet F, Mahmoodi M, Pope BJ, Giles GG, Hopper JL, Southey MC, Park DJ. Nguyen-Dumont T, et al. Among authors: pope bj. Biotechniques. 2015 Jan 1;58(1):33-6. doi: 10.2144/000114247. eCollection 2015 Jan. Biotechniques. 2015. PMID: 25605578 Free article.
Somatic mutations of the coding microsatellites within the beta-2-microglobulin gene in mismatch repair-deficient colorectal cancers and adenomas.
Clendenning M, Huang A, Jayasekara H, Lorans M, Preston S, O'Callaghan N, Pope BJ, Macrae FA, Winship IM, Milne RL, Giles GG, English DR, Hopper JL, Win AK, Jenkins MA, Southey MC, Rosty C, Buchanan DD; investigators from the Melbourne Collaborative Cohort Study and the Australasian Colorectal Cancer Family Registry Cohort. Clendenning M, et al. Among authors: pope bj. Fam Cancer. 2018 Jan;17(1):91-100. doi: 10.1007/s10689-017-0013-y. Fam Cancer. 2018. PMID: 28616688 Free PMC article.
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