Xingmin Zhang

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

The paper identifies sex-biased differential alternative splicing across multiple human tissues and links it to gene function and estrogen response.

The paper introduces LIRICAL, a likelihood ratio-based framework for genomic diagnostics that improves accuracy and interpretability in phenotype-driven rare disease diagnosis.

The paper semantically integrates LOINC-encoded laboratory data with the Human Phenotype Ontology to identify asthma biomarkers from EHR data.