Design considerations for massively parallel sequencing studies of complex human disease.

by Bing-Jian Feng, Sean V Tavtigian, Melissa C Southey, David E Goldgar
Published 2011-01-01

Functional impact of missense variants in BRCA1 predicted by supervised learning.

by Rachel Karchin, Alvaro N A Monteiro, Sean V Tavtigian, Marcelo A Carvalho, Andrej Sali
Published 2007-02-01

Mobile element insertions and associated structural variants in longitudinal breast cancer samples

by Cody J. Steely, Kristi L. Russell, Julie E. Feusier, Yi Qiao, Sean V. Tavtigian, Gabor Marth, Lynn B. Jorde
Published 2021-06-01

Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors.

by Hector Hernandez-Vargas, Marie-Pierre Lambert, Florence Le Calvez-Kelm, Géraldine Gouysse, Sandrine McKay-Chopin, Sean V Tavtigian, Jean-Yves Scoazec, Zdenko Herceg
Published 2010-03-01

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.

by Florence Le Calvez-Kelm, Javier Oliver, Francesca Damiola, Nathalie Forey, Nivonirina Robinot, Geoffroy Durand, Catherine Voegele, Maxime P Vallée, Graham Byrnes, Breast Cancer Family Registry, John L Hopper, Melissa C Southey, Irene L Andrulis, Esther M John, Sean V Tavtigian, Fabienne Lesueur
Published 2012-01-01

Pancreatic cancer as a sentinel for hereditary cancer predisposition

by Erin L. Young, Bryony A. Thompson, Deborah W. Neklason, Matthew A. Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh Neumayer, David E. Goldgar, Sean J. Mulvihill, Lisa A. Cannon-Albright, Sean V. Tavtigian
Published 2018-06-01

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.

by Anne-Laure Renault, Fabienne Lesueur, Yan Coulombe, Stéphane Gobeil, Penny Soucy, Yosr Hamdi, Sylvie Desjardins, Florence Le Calvez-Kelm, Maxime Vallée, Catherine Voegele, Breast Cancer Family Registry, John L Hopper, Irene L Andrulis, Melissa C Southey, Esther M John, Jean-Yves Masson, Sean V Tavtigian, Jacques Simard
Published 2016-01-01

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

by Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Published 2019-12-01

Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)

by Jennifer D. Brooks, Hermann H. Nabi, Irene L. Andrulis, Antonis C. Antoniou, Jocelyne Chiquette, Philippe Després, Peter Devilee, Michel Dorval, Arnaud Droit, Douglas F. Easton, Andrea Eisen, Laurence Eloy, Samantha Fienberg, David Goldgar, Eric Hahnen, Yann Joly, Bartha Maria Knoppers, Aisha Lofters, Jean-Yves Masson, Nicole Mittmann, Jean-Sébastien Paquette, Nora Pashayan, Rita Schmutzler, Tracy Stockley, Sean V. Tavtigian, Meghan J. Walker, Michael Wolfson, Anna Maria Chiarelli, Jacques Simard
Published 2021-06-01

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

by Bryony A. Thompson, Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
Published 2020-07-01