Anna Cho

The paper investigates the role of EZH2 in Duchenne muscular dystrophy and shows that inhibiting EZH2 improves muscle phenotype in Dmd mutant mice when combined with glucocorticoids.

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.