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Thompson, Bryony A., Goldgar, David E., Paterson, Carol, Clendenning, Mark, Walters, Rhiannon, Arnold, Sven, Parsons, Michael T., Michael, D., Gallinger, Steven, Haile, Robert W., Hopper, John L., Jenkins, Mark A., LeMarchand, Loic, Lindor, Noralane M., Newcomb, Polly A., Thibodeau, Stephen N., Colon Cancer Family Registry, Young, Joanne P., Buchanan, Daniel D., Tavtigian, Sean V. and Spurdle, Amanda B. (2013) 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. Human Mutation, 34 1: 200-209. doi:10.1002/humu.22213 45   15 Cited 16 times in Scopus16 2
Parsons, Michael T., Buchanan, Daniel D., Thompson, Bryony, Young, Joanne P. and Spurdle, Amanda B. (2012) Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. Journal of Medical Genetics, 49 3: 151-157. doi:10.1136/jmedgenet-2011-100714 61 2 46 Cited 49 times in Scopus49 2
Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2014) Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. PloS One, 9 1: 1-10. doi:10.1371/journal.pone.0086836 40   0 Cited 0 times in Scopus0 2
Buchanan, Daniel D., Tan, Yen Y., Walsh, Michael D., Clendenning, Mark, Metcalf, Alexander M., Ferguson, Kaltin, Arnold, Sven T., Thompson, Bryony A., Lose, Felicity A., Parsons, Michael T., Walters, Rhiannon J., Pearson, Sally-Ann, Cummings, Margaret, Oehler, Martin K., Blomfield, Penelope B., Quinn, Michael A., Kirk, Judy A., Stewart, Colin J., Obermair, Andreas, Young, Joanne P., Webb, Penelope M. and Spurdle, Amanda B. (2014) 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. Journal of Clinical Oncology, 32 2: 90-100. doi:10.1200/JCO.2013.51.2129 21   9 Cited 12 times in Scopus12 8