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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 48   15 Cited 17 times in Scopus17 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 42   36 Cited 35 times in Scopus35 83
Waddell, Nic, Jonnalagadda, Jyoti, Marsh, Anna, Grist, Scott, Jenkins, Mark, Hobson, Karen, Taylor, Malcolm, Lindeman, Geoff J., Tavtigian, Sean V., Suthers, Graeme, Goldgar, David, Oefner, Peter J., kConFab Investigators, Taylor, Darrin, Grimmond, Sean, Khanna, Kum Kum and Chenevix-Trench, Georgia (2006) Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes and Cancer, 45 12: 1169-1181. doi:10.1002/gcc.20381 111   7 Cited 5 times in Scopus5 0
Arnold, Sven, Buchanan, Daniel D., Barker, Melissa, Jaskowski, Lesley, Walsh, Michael D., Birney, Genevieve, Woods, Michael O., Hopper, John L., Jenkins, Mark A., Brown, Melissa A., Tavtigian, Sean V., Goldgar, David E., Young, Joanne P. and Spurdle, Amanda B. (2009) Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Human Mutation, 30 5: 757-770. doi:10.1002/humu.20936 69   38 Cited 39 times in Scopus39 0
Walker, Logan C., Whiley, Phillip J., Couch, Fergus J., Farrugia, Daniel J., Healey, Sue, Eccles, Diana M., Lin, Feng, Butler, Samantha A., Goff, Sheila A., Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A. and Spurdle, Amanda B. (2010) Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity. Human Mutation, 31 6: E1484-E1505. doi:10.1002/humu.21267 63   23 Cited 29 times in Scopus29 0
Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K., Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B. and Brown, Melissa A. (2005) Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Research, 7 6: R929-R939. doi:10.1186/bcr1324 80   19 0
Chenevix-Trench, Georgia, Healey, Sue, Lakhani, Sunil, Waring, Paul, Cummings, Margaret, Brinkworth, Ross, Deffenbaugh, Amie M., Burbidge, Lynn Anne, Pruss, Dmitry, Judkins, Thad, Scholl, Tom, Bekessy, Anna, Marsh, Anna, Lovelock, Paul, Wong, Ming, Tesoriero, Andrea, Renard, Helene, Southey, Melissa, Hopper, John L., Yannoukakos, Koulis, Brown, Melissa, kConFab Investigators, Easton, Douglas, Tavtigian, Sean V., Goldgar, David and Spurdle, Amanda B. (2006) Genetic and Histopathologic Evaluation of BRCA1 and BRCA2 DNA Sequence Variance of Unknown Clinical Significance. Cancer Research, 66 4: 2019-2027. doi:10.1158/0008-5472.CAN-05-3546 221   102 Cited 104 times in Scopus104 0
Tavtigian, Sean V. and Chenevix-Trench, Georgia (2014) Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomarkers in Medicine, 8 4: 589-603. doi:10.2217/bmm.13.143 10   0 Cited 0 times in Scopus0 0
Lovelock, Paul K., Spurdle, Amanda B., Mok, Myth T. S., Farrugia, Daniel J., Lakhani, Sunil R., Healey, Sue, Arnold, Stephen, Buchanan, Daniel, kConFab Investigators, Couch, Fergus J., Henderson, Berik R., Goldgar, David E., Tavtigian, Sean V., Chenevix-Trench, Georgia and Brown, Melissa A (2007) Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?. Breast Cancer Research, 9 6: R82: 1-13. doi:10.1186/bcr1826 114   28 Cited 24 times in Scopus24 0
Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011) Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 6: 678-687. doi:10.1002/humu.21495 97   18 Cited 18 times in Scopus18 0