Research Interests

Our group primarily conducts research on molecular diagnosis and pathogenesis of genetic disease, focusing on the following directions:

• Using varied molecular technologies to perform the diagnosis ofrare diseases, to establish cohort studies and clarify the genotype-phenotype relationship.

• Identifying new disease-causing gene of rare diseases by whole-exome/genome sequencing and exploring the molecular mechanism through various cellular and animal models.

• Developing new diagnostic approaches and data analysis tools to improve the molecular diagnostic positive rate of rare diseases.

• Mulitple related findings havebeenpublished in morethan 200 academic papers including New England Journal of Medicine, Genetics in Medicine, etc.