Hyung Chul Kim

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

This study identifies 5'UTR exons containing uORFs as targets for splice-switching to increase protein translation in haploinsufficient disease genes.

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.