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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
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 109   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 66   37 Cited 37 times in Scopus37 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 59   22 Cited 27 times in Scopus27 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 76   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 216   102 Cited 102 times in Scopus102 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 111   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 88   16 Cited 18 times in Scopus18 0