国家重大研究计划首席科学家、国家自然科学基金杰出青年基金获得者、教育“长江学者”奖励计划特聘教授，科技部重点领域创新团队负责人。2010年迄今以通讯/共通讯作者发表论文58篇，含NEJM、Circulation 2篇、Cell Res 2篇、STTT、Cell Discov等；任JGG、J Rep Dev等期刊编委、中华医学会常务委员、中国遗传学会医学遗传委员会常委。获教育部自然科学一等奖、中国青年女科学家奖、谈家桢生命科学创新奖、全国五一劳动奖章以及连续三次美国妇产科研究学会主席奖、全国五一劳动奖章等。

1. Qin Y#, et al…,Gong XH* and Wang HY*. A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. Mol Psychiatry 2022 Jul;27(7):2985-98.

2. Li C#, et al…,Zhao JY* and Wang HY*. Master microRNA-222 regulates cardiac microRNA maturation and triggers Tetralogy of Fallot. Signal Transduct Target Ther. 2022;7(1):165.

3. Wang YL#, et al…,Wang CJ* and Wang HY*. KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. Sci Adv. 2022;8(31):eabm5578.

4. Chen ZZ#, et al…,Zhang T*, Finnell R*, Wang HY*. Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell Res 2018; 28(10):1039-41

5. Zhou X#, Wang HY*. ACOX2 deficiency in primary malignant cardiac tumors.Proc Natl Acad Sci U S A.2017; 114(18):E3590-E3591

6. Wang D#, et al…,Zhao SM*, Wang HY*, Zhao JY*. Lower Circulating Folate Induced by a Fidgetin Intronic Variant is Associated with Reduced Congenital Heart Disease Susceptibility.Circulation. 2017;135(18):1733-1748

7. Zhao JY#, et al…, Huang GY*, Jin L*, Wang HY*. Genetic variants reducing MTR gene expression increase risk of congenital heart disease in a Chinese population. Eur Heart J. 2014;35(11):733-42

8. Zhao JY#, et al…, Wang HY*. A Functional Variant in the Cystathionine b-Synthase Gene Promoter Significantly Reduces Congenital Heart Disease Susceptibility in Han Chinese Population. Cell Res, 2013;23:242-253

• 新发突变致出生缺陷的发生机理，全国妇幼健康自然科学一等奖，第一完成人，2016

• 中国人群重大出生缺陷的遗传分析，教育部自然科学一等奖，第一完成人，2015