Yen‐Fu Cheng

This study shows that cardiac biopsies from Fabry disease patients exhibit significant cellular stress and irreversible damage before Gb3 inclusion bodies form, suggesting earlier treatment initiation is needed.

The paper investigates the pathogenicity of the SLC26A4 p.C565Y variant using genetically modified mice, finding it non-pathogenic in mice despite being reported as pathogenic in humans.

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.