Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

by Bryony A. Thompson, Amanda B. Spurdle
Published 2015-03-01

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

by Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Published 2020-06-01

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

by Logan C Walker, Bryony A Thompson, Nic Waddell, kConFab Investigators, Sean M Grimmond, Amanda B Spurdle
Published 2010-02-01

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

by Paul Lacaze, Robert Sebra, Moeen Riaz, Jodie Ingles, Jane Tiller, Bryony A. Thompson, Paul A. James, Diane Fatkin, Christopher Semsarian, Christopher M. Reid, Andrew M. Tonkin, Ingrid Winship, Eric Schadt, John J. McNeil
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

Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

by Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Published 2021-05-01

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

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

by Estela Dámaso, Maribel González-Acosta, Gardenia Vargas-Parra, Matilde Navarro, Judith Balmaña, Teresa Ramon y Cajal, Noemí Tuset, Bryony A. Thompson, Fátima Marín, Anna Fernández, Carolina Gómez, Àngela Velasco, Ares Solanes, Sílvia Iglesias, Gisela Urgel, Consol López, Jesús del Valle, Olga Campos, Maria Santacana, Xavier Matias-Guiu, Conxi Lázaro, Laura Valle, Joan Brunet, Marta Pineda, Gabriel Capellá
Published 2020-07-01

Genomic Risk Prediction for Breast Cancer in Older Women

by Paul Lacaze, Andrew Bakshi, Moeen Riaz, Suzanne G. Orchard, Jane Tiller, Johannes T. Neumann, Prudence R. Carr, Amit D. Joshi, Yin Cao, Erica T. Warner, Alisa Manning, Tú Nguyen-Dumont, Melissa C. Southey, Roger L. Milne, Leslie Ford, Robert Sebra, Eric Schadt, Lucy Gately, Peter Gibbs, Bryony A. Thompson, Finlay A. Macrae, Paul James, Ingrid Winship, Catriona McLean, John R. Zalcberg, Robyn L. Woods, Andrew T. Chan, Anne M. Murray, John J. McNeil
Published 2021-07-01