Linda Hasadsri

This study profiles mitochondrial respiration in IBM muscle tissue, identifying sex-specific impairments in respiration and OXPHOS complexes, along with correlations with disease severity.

This study uses long-read sequencing to re-evaluate the pathogenicity of intragenic DMD duplications, finding that many are non-tandem and likely benign.

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.