Bryony Thompson

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.

Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, et al.

Journal article  |  2022  |  J Med Genet

BACKGROUND: Germline pathogenic variants in CDH1 are associated with increased risk of diffuse gastric cancer and lobular breast c..

Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees-Stuivenberg, Mark Drost, Bryony Thompson, Amanda B Spurdle, Niels de Wind

Journal article  |  2022  |  Hum Mutat

The large majority of germline alterations identified in the DNA mismatch repair (MMR) gene PMS2, a low-penetrance gene for the ca..

Clinical impact of whole-genome sequencing in patients with early-onset dementia

Aamira J Huq, Bryony Thompson, Mark F Bennett, Adam Bournazos, Shobhana Bommireddipalli, Alexandra Gorelik, Joshua Schultz, Adrienne Sexton, Rebecca Purvis, Kirsty West, Megan Cotter, Giulia Valente, Andrew Hughes, Moeen Riaz, Maie Walsh, Sarah Farrand, Samantha M Loi, Trevor Kilpatrick, Amy Brodtmann, David Darby, et al.

Journal article  |  2022  |  JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

BACKGROUND: In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challengin..

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Maie Walsh, Kirsty West, Jessica A Taylor, Bryony A Thompson, Adelaide Hopkins, Adrienne Sexton, Abiramy Ragunathan, Kunal P Verma, Julie Panetta, Ebony Matotek, Michael C Fahey, Michael Christie, Ingrid M Winship, Alison H Trainer, Paul A James

Journal article  |  2022  |  Genet Med

PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across vari..

TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members

Rachel Delahunty, Linh Nguyen, Stuart Craig, Belinda Creighton, Dinuka Ariyaratne, Dale W Garsed, Elizabeth Christie, Sian Fereday, Lesley Andrews, Alexandra Lewis, Sharne Limb, Ahwan Pandey, Joy Hendley, Nadia Traficante, Natalia Carvajal, Amanda B Spurdle, Bryony Thompson, Michael T Parsons, Victoria Beshay, Mila Volcheck, et al.

Journal article  |  2022  |  JOURNAL OF CLINICAL ONCOLOGY

PURPOSE: Tubo-ovarian cancer (TOC) is a sentinel cancer for BRCA1 and BRCA2 pathogenic variants (PVs). Identification of a PV in t..

Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions

Kathleen A Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L Boyle, Judith Rosenthal, Angela K Snow, Alex W Stark, Bryony A Thompson, Joshua Unger, Jason Gertz, Katherine E Varley, Kenneth M Boucher, David E Goldgar, William D Foulkes, Alun Thomas, Sean Tavtigian

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

BRCA1 is a high-risk susceptibility gene for breast and ovarian cancer. Pathogenic protein-truncating variants are scattered acros..

Rivaroxaban in the treatment of TEK-related venous malformation

Hnin P Oo, Sant-Rayn Pasricha, Bryony Thompson, Ingrid Winship, Laura Scardamaglia

Journal article  |  2022  |  AUSTRALASIAN JOURNAL OF DERMATOLOGY

Low-flow vascular malformations are rare congenital anomalies due to errors in vascular development and may be associated with kno..

Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review

Stacey Peters, Bryony A Thompson, Mark Perrin, Paul James, Dominica Zentner, Jonathan M Kalman, Jamie Vandenberg, Diane Fatkin

Journal article  |  2022  |  CIRCULATION-GENOMIC AND PRECISION MEDICINE

BACKGROUND: Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.5, are associated with a highly arrhythmogen..

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

A novel candidate gene in autosomal dominant facial pruritus

BA Thompson, K Dear, E Donaldson, R Nixon, IM Winship

Journal article  |  2021  |  CLINICAL AND EXPERIMENTAL DERMATOLOGY

In the clinical investigation of a family with debilitating centrofacial pruritus by exome sequencing, we have observed a clear se..