Yeomin Yun, Sung-Ah Hong et al. compare the whole-genome sequence from a male with amyotrophic lateral sclerosis (ALS) to his healthy parents, identifying the M1311V variant in the X-lined ATP7A gene. They show that CRISPR-mediated gene correction in patient-derived neurons rescues neuronal activity.
- Yeomin Yun
- Sung-Ah Hong
- Yoon Ha
