Yanshan Liu

Multi-tissue transition of A-to-I RNA editing pattern and its regulatory relevance in transcription, splicing, and translation during development

The paper analyzes A-to-I RNA editing dynamics across six mouse tissues during development, showing increased editing activity and its impact on gene expression and splicing.

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

Novel missense mutation E585K in retinitis pigmentosa leads to compromised RPGR splicing diversity

The paper identifies a novel missense mutation E585K in RPGR that affects RNA splicing patterns, leading to reduced splicing diversity and potentially explaining slow disease progression in RP patients.