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Items: 8


The molecular origin and taxonomy of mucinous ovarian carcinoma.

Cheasley D, Wakefield MJ, Ryland GL, Allan PE, Alsop K, Amarasinghe KC, Ananda S, Anglesio MS, Au-Yeung G, Böhm M, Bowtell DDL, Brand A, Chenevix-Trench G, Christie M, Chiew YE, Churchman M, DeFazio A, Demeo R, Dudley R, Fairweather N, Fedele CG, Fereday S, Fox SB, Gilks CB, Gourley C, Hacker NF, Hadley AM, Hendley J, Ho GY, Hughes S, Hunstman DG, Hunter SM, Jobling TW, Kalli KR, Kaufmann SH, Kennedy CJ, Köbel M, Le Page C, Li J, Lupat R, McNally OM, McAlpine JN, Mes-Masson AM, Mileshkin L, Provencher DM, Pyman J, Rahimi K, Rowley SM, Salazar C, Samimi G, Saunders H, Semple T, Sharma R, Sharpe AJ, Stephens AN, Thio N, Torres MC, Traficante N, Xing Z, Zethoven M, Antill YC, Scott CL, Campbell IG, Gorringe KL.

Nat Commun. 2019 Sep 2;10(1):3935. doi: 10.1038/s41467-019-11862-x.


Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.

Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, Lee JEA, Lewis A, Morgan JA, Limb S, Young MA, James PA, Trainer AH, Campbell IG.

Genet Med. 2019 Apr;21(4):913-922. doi: 10.1038/s41436-018-0277-0. Epub 2018 Sep 26.


Mutations in RECQL are not associated with breast cancer risk in an Australian population.

Li N, Rowley SM, Goode DL, Amarasinghe KC, McInerny S, Devereux L; LifePool Investigators, Wong-Brown MW, Lupat R, Lee JEA, Hughes S, Thompson ER, Zethoven M, Li J, Trainer AH, Gorringe KL, Scott RJ, James PA, Campbell IG.

Nat Genet. 2018 Oct;50(10):1346-1348. doi: 10.1038/s41588-018-0206-9. No abstract available.


Mutational Landscape of Ovarian Adult Granulosa Cell Tumors from Whole Exome and Targeted TERT Promoter Sequencing.

Alexiadis M, Rowley SM, Chu S, Leung DTH, Stewart CJR, Amarasinghe KC, Campbell IG, Fuller PJ.

Mol Cancer Res. 2019 Jan;17(1):177-185. doi: 10.1158/1541-7786.MCR-18-0359. Epub 2018 Aug 30.


Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N, Rowley SM, Thompson ER, McInerny S, Devereux L, Amarasinghe KC, Zethoven M, Lupat R, Goode D, Li J, Trainer AH, Gorringe KL, James PA, Campbell IG.

Breast Cancer Res. 2018 Jan 9;20(1):3. doi: 10.1186/s13058-017-0929-z.


Inferring copy number and genotype in tumour exome data.

Amarasinghe KC, Li J, Hunter SM, Ryland GL, Cowin PA, Campbell IG, Halgamuge SK.

BMC Genomics. 2014 Aug 28;15:732. doi: 10.1186/1471-2164-15-732.


CoNVEX: copy number variation estimation in exome sequencing data using HMM.

Amarasinghe KC, Li J, Halgamuge SK.

BMC Bioinformatics. 2013;14 Suppl 2:S2. doi: 10.1186/1471-2105-14-S2-S2. Epub 2013 Jan 21.


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.

Bioinformatics. 2012 May 15;28(10):1307-13. doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2.

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