Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Tavtigian, Sean V, Greenblatt, Marc S, Harrison, Steven M, Nussbaum, Robert L, Prabhu, Snehit A, Boucher, Kenneth M, Biesecker, Leslie G
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Easton, Douglas F, Pharoah, Paul D.P, Antoniou, Antonis C, Tischkowitz, Marc, Tavtigian, Sean V, Nathanson, Katherine L, Devilee, Peter, Meindl, Alfons, Couch, Fergus J, Southey, Melissa, Goldgar, David E, Evans, D. Gareth R, Chenevix-Trench, Georgia, Rahman, Nazneen, Robson, Mark, Domchek, Susan M, Foulkes, William D
Published in The New England journal of medicine (04.06.2015)
Published in The New England journal of medicine (04.06.2015)
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Brnich, Sarah E, Abou Tayoun, Ahmad N, Couch, Fergus J, Cutting, Garry R, Greenblatt, Marc S, Heinen, Christopher D, Kanavy, Dona M, Luo, Xi, McNulty, Shannon M, Starita, Lea M, Tavtigian, Sean V, Wright, Matt W, Harrison, Steven M, Biesecker, Leslie G, Berg, Jonathan S
Published in Genome medicine (31.12.2019)
Published in Genome medicine (31.12.2019)
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
Plon, Sharon E, Eccles, Diana M, Easton, Douglas, Foulkes, William D, Genuardi, Maurizio, Greenblatt, Marc S, Hogervorst, Frans B.L, Hoogerbrugge, Nicoline, Spurdle, Amanda B, Tavtigian, Sean V
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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Journal Article
A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
Easton, Douglas F., Deffenbaugh, Amie M., Pruss, Dmitry, Frye, Cynthia, Wenstrup, Richard J., Allen-Brady, Kristina, Tavtigian, Sean V., Monteiro, Alvaro N.A., Iversen, Edwin S., Couch, Fergus J., Goldgar, David E.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Journal Article
Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors
Hernandez-Vargas, Hector, Lambert, Marie-Pierre, Le Calvez-Kelm, Florence, Gouysse, Géraldine, McKay-Chopin, Sandrine, Tavtigian, Sean V, Scoazec, Jean-Yves, Herceg, Zdenko
Published in PloS one (17.03.2010)
Published in PloS one (17.03.2010)
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Journal Article
In silico analysis of missense substitutions using sequence-alignment based methods
Tavtigian, Sean V, Greenblatt, Marc S, Lesueur, Fabienne, Byrnes, Graham B
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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Journal Article
BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management
Lindor, Noralane M., Goldgar, David E., Tavtigian, Sean V., Plon, Sharon E., Couch, Fergus J.
Published in The oncologist (Dayton, Ohio) (01.05.2013)
Published in The oncologist (Dayton, Ohio) (01.05.2013)
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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hu, Hao, Roach, Jared C, Coon, Hilary, Guthery, Stephen L, Voelkerding, Karl V, Margraf, Rebecca L, Durtschi, Jacob D, Tavtigian, Sean V, Shankaracharya, Wu, Wilfred, Scheet, Paul, Wang, Shuoguo, Xing, Jinchuan, Glusman, Gustavo, Hubley, Robert, Li, Hong, Garg, Vidu, Moore, Barry, Hood, Leroy, Galas, David J, Srivastava, Deepak, Reese, Martin G, Jorde, Lynn B, Yandell, Mark, Huff, Chad D
Published in Nature biotechnology (01.07.2014)
Published in Nature biotechnology (01.07.2014)
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Journal Article
Pancreatic cancer as a sentinel for hereditary cancer predisposition
Young, Erin L, Thompson, Bryony A, Neklason, Deborah W, Firpo, Matthew A, Werner, Theresa, Bell, Russell, Berger, Justin, Fraser, Alison, Gammon, Amanda, Koptiuch, Cathryn, Kohlmann, Wendy K, Neumayer, Leigh, Goldgar, David E, Mulvihill, Sean J, Cannon-Albright, Lisa A, Tavtigian, Sean V
Published in BMC cancer (27.06.2018)
Published in BMC cancer (27.06.2018)
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Journal Article
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
Tavtigian, Sean V., Oefner, Peter J., Babikyan, Davit, Hartmann, Anne, Healey, Sue, Le Calvez-Kelm, Florence, Lesueur, Fabienne, Byrnes, Graham B., Chuang, Shu-Chun, Forey, Nathalie, Feuchtinger, Corinna, Gioia, Lydie, Hall, Janet, Hashibe, Mia, Herte, Barbara, McKay-Chopin, Sandrine, Thomas, Alun, Vallée, Maxime P., Voegele, Catherine, Webb, Penelope M., Whiteman, David C., Sangrajrang, Suleeporn, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., John, Esther M., Chenevix-Trench, Georgia
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Journal Article
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
Drost, Mark, Tiersma, Yvonne, Glubb, Dylan, Kathe, Scott, van Hees, Sandrine, Calléja, Fabienne, Zonneveld, José B M, Boucher, Kenneth M, Ramlal, Renuka P E, Thompson, Bryony A, Rasmussen, Lene Juel, Greenblatt, Marc S, Lee, Andrea, Spurdle, Amanda B, Tavtigian, Sean V, de Wind, Niels
Published in Genetics in medicine (01.05.2020)
Published in Genetics in medicine (01.05.2020)
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Journal Article
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
Thompson, Bryony A, Walters, Rhiannon, Parsons, Michael T, Dumenil, Troy, Drost, Mark, Tiersma, Yvonne, Lindor, Noralane M, Tavtigian, Sean V, de Wind, Niels, Spurdle, Amanda B
Published in Frontiers in genetics (27.07.2020)
Published in Frontiers in genetics (27.07.2020)
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Journal Article
Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
Goldgar, David E., Easton, Douglas F., Deffenbaugh, Amie M., Monteiro, Alvaro N.A., Tavtigian, Sean V., Couch, Fergus J.
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Journal Article
Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs
Vallée, Maxime P., Francy, Tiana C., Judkins, Megan K., Babikyan, Davit, Lesueur, Fabienne, Gammon, Amanda, Goldgar, David E., Couch, Fergus J., Tavtigian, Sean V.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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Journal Article
Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group
Tavtigian, Sean V, Greenblatt, Marc S, Goldgar, David E, Boffetta, Paolo
Published in Human mutation (01.11.2008)
Published in Human mutation (01.11.2008)
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Journal Article
Methylome analysis reveals Jak-STAT pathway deregulation in putative breast cancer stem cells
Hernández-Vargas, Héctor, Ouzounova, Maria, Le Calvez-Kelm, Florence, Lambert, Marie-Pierre, McKay-Chopin, Sandrine, Tavtigian, Sean V., Puisieux, Alain, Matar, Chantal, Herceg, Zdenko
Published in Epigenetics (01.04.2011)
Published in Epigenetics (01.04.2011)
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