CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs - ScienceDirect

OPA1 regulation of mitochondrial dynamics in skeletal and cardiac muscle - ScienceDirect

Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management - The Lancet Neurology