1. Lele Kuang, Yuchao Jiang, Shuxia Chen, Ke Su, Rui Peng, Xueyan Yang* and Hongyan Wang*. Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects. Genes & Diseases, 2021 Dec 8;9(5):1174-1177.

2. Jianhong Ye, Youli Tong, Jiashun Lv, Rui Peng, Shuxia Chen, Lele Kuang, Ke Su, Yufang Zheng, Ting Zhang, Feng Zhang, Li Jin, Xueyan Yang* and Hongyan Wang*. Rare mutations in the autophagy‐regulating gene AMBRA1 contribute to human neural tube defects, Human Mutation, 2020;41:1383-1393.

3. Ke Su, Shuxia Chen, Jianhong Ye, Lele Kuang, Ting Zhang, Hongyan Wang and Xueyan Yang. A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population. Child's Nervous System. 2019;35:965-972.

4. Yang XY*, Zhou XY*, Wang QQ*, Li H, Chen Y, Lei YP, Ma XH, Kong P, Shi Y, Jin L, Zhang T, Wang HY. Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects. Hum Mutat. 2013;34(8):1094-1101.

5. Zhao JY*, Yang XY*, Gong XH*, Gu ZY, Duan WY, Wang J, Ye ZZ, Shen HB, Shi KH, Hou J, Huang GY, Jin L, Qiao B, Wang HY. Functional Variant in Methionine Synthase Reductase Intron-1 Significantly Increases the Risk of Congenital Heart Disease in the Han Chinese Population. Circulation. 2012;125(3):482-490.

6. Rodrigues FS*, Yang X*, Nikaido M, Liu Q, Kelsh RN. A simple, highly visual in vivo screen for anaplastic lymphoma kinase inhibitors. ACS Chem Biol. 2012;7(12):1968-1974.

7. Zhao JY*, Yang XY*, Shi KH*, Sun SN, Hou J, Ye ZZ, Wang J, Duan WY, Qiao B, Chen YJ, Shen HB, Huang GY, Jin L, Wang HY. A functional variant in the cystathionine beta-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population. Cell Res. 2012(23):242-253.

8. Lopes SS*, Yang XY*, Muller J, Carney TJ, McAdow AR, Rauch GJ, Jacoby AS, Hurst LD, Delfino-Machin M, Haffter P, Geisler R, Johnson SL, Ward A, Kelsh RN. Leukocyte tyrosine kinase functions in pigment cell development. PLoS Genetics. 2008;4(e10000263):e1000026.