Ebony Richardson

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.

The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.

The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

This study uses a high-throughput patch-clamp assay to reclassify KCNH2 variants of uncertain significance, providing evidence for clinical interpretation.