Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

por Thompson, Bryony A., Spurdle, Amanda B.
Publicado 2015

Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients

por Sloane, Mathew A, Hesson, Luke B, Nunez, Andrea C, Thompson, Bryony A, Ward, Robyn L
Publicado 2014

Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

por Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B.
Publicado 2010

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

por Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca
Publicado 2020

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

por 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.
Publicado 2020

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

por Shamsani, Jannah, Kazakoff, Stephen H, Armean, Irina M, McLaren, Will, Parsons, Michael T, Thompson, Bryony A, O’Mara, Tracy A, Hunt, Sarah E, Waddell, Nicola, Spurdle, Amanda B
Publicado 2019

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor

por Cannon‐Albright, Lisa A., Teerlink, Craig C., Stevens, Jeffrey, Snow, Angela K., Thompson, Bryony A., Bell, Russell, Nguyen, Kim N., Sargent, Nykole R., Kohlmann, Wendy K., Neklason, Deborah W., Tavtigian, Sean V.
Publicado 2020

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

por Lacaze, Paul, Sebra, Robert, Riaz, Moeen, Ingles, Jodie, Tiller, Jane, Thompson, Bryony A., James, Paul A., Fatkin, Diane, Semsarian, Christopher, Reid, Christopher M., Tonkin, Andrew M., Winship, Ingrid, Schadt, Eric, McNeil, John J.
Publicado 2021

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

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

Pancreatic cancer as a sentinel for hereditary cancer predisposition

por 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.
Publicado 2018

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

por Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J.
Publicado 2018

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

por 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
Publicado 2020

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

por van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John‐Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.
Publicado 2015

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

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

Genomic Risk Prediction for Breast Cancer in Older Women

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

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

por Lacaze, Paul, Sebra, Robert, Riaz, Moeen, Tiller, Jane, Revote, Jerico, Phung, James, Parker, Emily J, Orchard, Suzanne G, Lockery, Jessica E, Wolfe, Rory, Strahl, Maya, Wang, Ying C, Chen, Rong, Sisco, Daniel, Arnold, Todd, Thompson, Bryony A, Buchanan, Daniel D, Macrae, Finlay A, James, Paul A, Abhayaratna, Walter P, Lockett, Trevor J, Gibbs, Peter, Tonkin, Andrew M, Nelson, Mark R, Reid, Christopher M, Woods, Robyn L, Murray, Anne M, Winship, Ingrid, McNeil, John J, Schadt, Eric
Publicado 2020