Amy Baker

This paper shows that loss-of-function variants in MAP3K7 cause dilated cardiomyopathy (DCM), both as part of syndromic disease and as apparently isolated DCM.

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.