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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
Thompson, Bryony A., Spurdle, Amanda B., Plazzer, John-Paul, Greenblatt, Marc S., Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capella, Gabriel, den Dunnen, Johan T., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian M., Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J., Sijmons, Rolf, Tavtigian, Sean V., Tops, Carli M., Weber, Thomas, Wijnen, Juul, Woods, Michael O., Macrae, Finlay, Genuardi, Maurizio and on behalf of InSiGHT (2014) Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, 46 2: 107-115. doi:10.1038/ng.2854 31   26 Cited 27 times in Scopus27 83
Spurdle, Amanda B., Whiley, Phillip J., Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A., Pettigrew, Christopher, kConFab, Van Asperen, Christi J., Ausems, Margreet G. E. M., Kattentidt-Mouravieva, Anna A., Pigg, Maritta H., Schmutzler, Rita K., Engel, Christoph, Meindl, Alfons, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo, Sandrine, Sinilnikova, Olga M., Lidereau, Rosette, French COVAR group collaborators, Couch, Fergus J., Guidugli, Lucia, van Overeem Hansen, Thomas, Thomassen, Mads, Eccles, Diana M., Tucker, Kathy, Benitez, Javier, Domchek, Susan M., Toland, Amanda E., Van Rensburg, Elizabeth J., Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P. G ., Goldgar, David E. and ENIGMA Consortium (2012) BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics, 49 8: 525-532. doi:10.1136/jmedgenet-2012-101037 98 1 13 Cited 15 times in Scopus15 1
Thompson, B.A., Greenblatt, M.S., Vallee, M.P., Herkert, J.C., Tessereau, C., Young, E.L., Adzhubey, I.A., Li, B., Bell, R., Feng, B., Mooney, S.D., Radivojac, P., Sunyaev, S.R., Frebourg, T., Hofstra, R.M., Sijmons, R.H., Boucher, K., Thomas, A., Goldgar, D.E., Spurdle, A.B. and Tavtigian, S.V. (2013) Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Human Mutation, 34 1: 255-265. doi:10.1002/humu.22214 30   15 Cited 15 times in Scopus15 3
Parsons, M.T., Whiley, P.J., Beesley, J., Drost, M., de Wind, N., Thompson, B.A., Marquart, L., Hopper, J.L., Jenkins, M.A., Brown, M.A., Tucker, K., Warwick, L., Buchanan, D.D. and Spurdle, A.B. (2013) Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. Molecular Carcinogenesis, In Press . doi:10.1002/mc.22116 22   Cited 0 times in Scopus0 0
Thompson, Bryony Ann (2014). Interpreting the clinical significance of mismatch repair gene sequence variants PhD Thesis, School of Medicine, The University of Queensland. doi:10.14264/uql.2015.22 34 109 0
Plazzer, J. P., Sijmons, R. H., Woods, M. O., Peltomaki, P., Thompson, B., Den Dunnen, J. T. and Macrae, F. (2013) The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome. Familial Cancer, 12 2: 175-180. doi:10.1007/s10689-013-9616-0 22   9 Cited 8 times in Scopus8 8