Research Interests

My laboratory group is interested in clinical and molecular research on genetic endocrine disorders.

• The basic and clinical research on genetic endocrine disorders: 1) We established the larger sample database for the Disorder of Sexual Development and developed the NGS Sequencing workflow for these patients; 2) We reported the first Chinese case of CYP17A1 mutation, identifying 6 novel mutations, and reported two rare patients attaining pregnancy by the appropriate choice of ovulation induction regimen, precise dose of glucocorticoid to reduce progesterone levels, and the use of IVF-ET. 3) We first identified the SMC5 mutation in the patient with microcephalic primordial dwarfism, diabetes and insulin resistance. The phenotype was reproduced in the SMC5 KO zebrafish, as well as in Knock-in mouse model (SMC5K371del).