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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
Li J, Meeks H, Feng BJ, Healey S, Thorne H, Makunin I, Ellis J; kConFab Investigators; Campbell I, Southey M, Mitchell G, Clouston D, Kirk J, Goldgar D, Chenevix-Trench G. Li J, et al. Among authors: makunin i. J Med Genet. 2016 Jan;53(1):34-42. doi: 10.1136/jmedgenet-2015-103452. Epub 2015 Nov 3. J Med Genet. 2016. PMID: 26534844 Free PMC article.
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
Li J, Li H, Makunin I; kConFab Investigators; Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G. Li J, et al. Among authors: makunin i. Breast Cancer Res Treat. 2017 Dec;166(3):937-949. doi: 10.1007/s10549-017-4469-0. Epub 2017 Aug 24. Breast Cancer Res Treat. 2017. PMID: 28840378 Free PMC article.
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: makunin iv. 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.
Genomics Virtual Laboratory: A Practical Bioinformatics Workbench for the Cloud.
Afgan E, Sloggett C, Goonasekera N, Makunin I, Benson D, Crowe M, Gladman S, Kowsar Y, Pheasant M, Horst R, Lonie A. Afgan E, et al. Among authors: makunin i. PLoS One. 2015 Oct 26;10(10):e0140829. doi: 10.1371/journal.pone.0140829. eCollection 2015. PLoS One. 2015. PMID: 26501966 Free PMC article.
Non-coding RNA.
Mattick JS, Makunin IV. Mattick JS, et al. Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R17-29. doi: 10.1093/hmg/ddl046. Hum Mol Genet. 2006. PMID: 16651366 Review.
46 results