Hyung Chul Kim

机构：Centre for Human Genetics, Open Data Institute, University of Oxford · ORCID：0000-0001-5877-5456

发表论文 9 篇 · 总被引 192 次 · h-index 5

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• LncRNAs in molluscan and mammalian stages of parasitic schistosomes are developmentally-regulated and coordinately expressed with protein-coding genes (2020 · RNA Biology · 被引 23)
• Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders (2025 · medRxiv · 被引 13)
• De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders (2024 · medRxiv · 被引 10)
• Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes (2026 · Nature Genetics · 被引 5)
• Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders (2026 · Nature · 被引 4)