申请人从事人类神经精神性疾病等遗传病的致病/易感基因鉴定和分子致病机制研究。参与了我国第一个遗传病致病基因GJB3的克隆。完成了我国第一个孤独症的全基因组关联研究，鉴定了1个新的易感基因位点，鉴定或验证了10余个易感基因以及19个孤独症相关的CNVs。2010年在我国最早采用外显子组测序克隆了脊髓小脑型共济失调致病基因TGM6和发作运动诱发性运动障碍致病基因PRRT2。证明FLG是银屑病的致病基因。至今共定位14个致病基因位点，克隆了高度近视致病基因SLC39A5等8个单基因病致病基因。.近五年发表SCI论文111篇，其中第一或通讯作者30篇，总被引用400次；入选教育部新世纪优秀人才、教育部创新团队带头人、新世纪百千万人才国家级人选、美国中华医学基金会杰出教授，万人计划。2012年任973项目首席科学家。2014年任医学遗传学国家重点实验室主任。

The applicant commit to the research of identifying the causative/susceptibility genes and molecular pathogenic mechanism of neuropsychiatric and severe inherited disorders. As a main investigator, he identified the causative gene for deafness, GJB3. This is the first disease-causing gene identified in China. The applicant completed the first genome wide association study for autism in China and identified a susceptible locus and more than 10 candidate risk genes. He also performed the first genome wide copy number variation study for autism in China and identified 19 autism related CNVs. In 2010, the applicant identified TGM6 as the causative gene for spinocerebellar ataxias, which is also the earliest achievement by using whole exome sequencing in China. The applicant have mapped 14 new linkage regions and identified 8 new causative genes of Mendelian disorders, including SLC39A5, of which the mutations cause high myopia.In the last 5 years, the applicant has published 111 SCI papers, which has been cited for 400 times. The applicant was elected to the Ministry of education for new century excellent talents, innovation team leader, the State Candidate of Millions of Talents Project in the New Century, Chinese Medical Board (CMB, US) Distinguished Professorship. As chief scientist, he was awarded a program of the Major State Basic Research Development Program of China (973 Program) in 2012. In 2014, the applicant was appointed the director of the state key laboratory of medical genetics.