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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators; Mitchell G, James PA, Scott RJ, Campbell IG. Thompson ER, et al. Among authors: li j, li n. Breast Cancer Res. 2015 Aug 19;17(1):111. doi: 10.1186/s13058-015-0627-7. Breast Cancer Res. 2015. PMID: 26283626 Free PMC article.
Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families.
Thorne H, Willems AJ, Niedermayr E, Hoh IM, Li J, Clouston D, Mitchell G, Fox S, Hopper JL; Kathleen Cunningham Consortium for Research in Familial Breast Cancer Consortium; Bolton D. Thorne H, et al. Among authors: li j. Cancer Prev Res (Phila). 2011 Jul;4(7):1002-10. doi: 10.1158/1940-6207.CAPR-10-0397. Cancer Prev Res (Phila). 2011. PMID: 21733824
CONTRA: copy number analysis for targeted resequencing.
Li J, Lupat R, Amarasinghe KC, Thompson ER, Doyle MA, Ryland GL, Tothill RW, Halgamuge SK, Campbell IG, Gorringe KL. Li J, et al. Bioinformatics. 2012 May 15;28(10):1307-13. doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2. Bioinformatics. 2012. PMID: 22474122 Free PMC article.
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab; Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG. Thompson ER, et al. Among authors: li j. PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27. PLoS Genet. 2012. PMID: 23028338 Free PMC article.
Bioinformatics pipelines for targeted resequencing and whole-exome sequencing of human and mouse genomes: a virtual appliance approach for instant deployment.
Li J, Doyle MA, Saeed I, Wong SQ, Mar V, Goode DL, Caramia F, Doig K, Ryland GL, Thompson ER, Hunter SM, Halgamuge SK, Ellul J, Dobrovic A, Campbell IG, Papenfuss AT, McArthur GA, Tothill RW. Li J, et al. PLoS One. 2014 Apr 21;9(4):e95217. doi: 10.1371/journal.pone.0095217. eCollection 2014. PLoS One. 2014. PMID: 24752294 Free PMC article.
Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent pathology in BRCA2 mutation carriers with prostate cancer and correlates with poor prognosis.
Risbridger GP, Taylor RA, Clouston D, Sliwinski A, Thorne H, Hunter S, Li J, Mitchell G, Murphy D, Frydenberg M, Pook D, Pedersen J, Toivanen R, Wang H, Papargiris M, Lawrence MG, Bolton DM. Risbridger GP, et al. Among authors: li j. Eur Urol. 2015 Mar;67(3):496-503. doi: 10.1016/j.eururo.2014.08.007. Epub 2014 Aug 22. Eur Urol. 2015. PMID: 25154392
Inferring copy number and genotype in tumour exome data.
Amarasinghe KC, Li J, Hunter SM, Ryland GL, Cowin PA, Campbell IG, Halgamuge SK. Amarasinghe KC, et al. Among authors: li j. BMC Genomics. 2014 Aug 28;15(1):732. doi: 10.1186/1471-2164-15-732. BMC Genomics. 2014. PMID: 25167919 Free PMC article.
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