Bryony A. Thompson

This study maps the mutational landscape of SOD1 by analyzing monomer folding and dimerization, identifying protein destabilization as a key driver of ALS and uncovering potential therapeutic targets.

This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.

The paper presents a workshop-based approach to improve confidence and standardize the use of functional evidence in variant classification through community discussion and consultation.

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

The paper updates CDH1 variant curation guidelines to resolve conflicting interpretations and reduce variants of uncertain significance for clinical use.

This study evaluates a polygenic risk score for breast cancer in women aged 70 and older, finding it improves risk prediction beyond conventional factors.

The paper develops and validates a mammalian 2-hybrid assay to classify BRCA1 RING domain missense substitutions, finding 20% are pathogenic and classifying 89% of observed variants.

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

The paper screens healthy elderly individuals to identify those resilient to genetic diseases despite high genetic risk, finding 141 individuals without associated disease despite pathogenic variants.

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.

The paper integrates functional assay data with sequence analysis to improve BRCA1 variant classification, adding 146 variants to the Ex-UV database.