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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 49   15 Cited 18 times in Scopus18 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, on behalf of InSiGHT and Ward, Robyn (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 43   42 Cited 42 times in Scopus42 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 103 1 15 Cited 16 times in Scopus16 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 31   18 Cited 19 times in Scopus19 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 26   Cited 1 times in Scopus1 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 61 335 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 23   12 Cited 9 times in Scopus9 8