Yuyang Chen

机构：Centre for Human Genetics, Open Data Institute, University of Oxford, Oxford BioMedica (United Kingdom) · ORCID：0000-0001-5593-6920

发表论文 12 篇 · 总被引 227 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)
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 47)
• Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders (2025 · medRxiv · 被引 13)
• Identification and analysis of drought-responsive F-box genes in upland rice and involvement of OsFBX148 in ABA response and ROS accumulation (2024 · BMC Plant Biology · 被引 12)
• 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)