Hoon‐Chul Kang

This study shows that a low number of mTOR mutant neurons can cause seizures in mice, and similar low levels of mosaicism are found in human patients.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

This study corrects an ABCD1 mutation in ALD patient-derived iPSCs using CRISPR/Cas9 and homology-directed repair, restoring normal protein expression but not fully correcting metabolic issues.

RePlow improves low-VAF somatic mutation detection by using technical replicates, reducing false positives by up to 99%.