2018年2月-至今，复旦大学附属妇产科医院 研究所，助理实验师

2010年7月-2018年1月，复旦大学王红艳课教授题组，科研助理

2015年3月-2018年1月，复旦大学生命科学学院，硕士

Email: ruipeng0526@126.com

 

 

 

 

代表性论著：

1.  Rui Peng^#, Binbin Li^#, Shuxia Chen, Zhiwen Shi, Liwei Yu, Yunqian Gao, Xueyan Yang, Lei Lu* and Hongyan Wang*. Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease. Frontiers in Cardiovascular Medicine, 2022, 9:798033.

2. Rui Peng, Lei Lu, Bingkun Lei, Hongyan Wang, Xiaoying Yao. Functional Analysis of Missense Mutations in GLI2 and GLI3 Involved in Congenital Heart Disease. Reproductive and Developmental Medicine, 2022.

3. 彭瑞，李培强，程良平，郑煜芳，王红艳，周翔宇*，BMP4基因稀有突变与先天性心脏病易感性的相关性研究，基因组学与应用生物学, 2018, 37(8): 3605-3610.

4. 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, 2022,9(5):1174-1177.

5. Yunqian Zhang, Rui Peng, Hongyan Wang. Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients. Molecular Genetics & Genomic Medicine, 2022,00:e2041.

6. Yalan Wang, Xiaotong Cao, Pei Liu, Weijia Zeng, Rui Peng, Qing Shi, Kai Feng, Pingzhao Zhang, Huiru Sun, Chenji Wang* and Hongyan Wang*. KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. Science Advances, 2022, 8(31), eabm5578.

7. 匡乐乐，彭瑞，刘斌，奚迪，常秋荣，高玉平，一例DYM基因移码变异所致Dyggve-Melchior-Clausen综合征患儿的临床及遗传学分析，中华医学遗传学杂志，2022，39(04)：370-373. DOI: 10.3760/cma.j.cn511374-20210127-00084.

8. Wangkai Liu^#, Liangping Cheng^#, Ken Chen^#, Jialing Wu^#, Rui Peng, Jinghai Chen, Yuedong Yang*, Peiqiang Li* and Zhanpeng Huang*. Identification of novel single nucleotide variants with potential of mediating malfunction of microRNA in congenital heart disease. Frontiers in Cardiovascular Medicine, 2021.

9. Li Yu^#, Lina Wang^#, Wufan Tao, Wenxiang Zhang, Shuanghao Yang, Jian Wang, Jia Fei, Rui Peng, Yiming Wu, Xiumei Zhen, Hong Shao, Weiyue Gu, Rong Li, Bailin Wu* and Hongyan Wang*. LHCGR and ALMS1 defects likely cooperate in the development of polycystic ovary syndrome indicated by double-mutant mice. Journal of Genetics and Genomics, 2021(48): 384-395.

10. Yalan Wang, Yue Qin, Rui Peng and Hongyan Wang. Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects, Molecular Genetics & Genomic Medicine, 2021, 00: e1563. 

11. 徐畅，彭瑞，王红艳，卢磊，DNMT1错义突变与神经管畸形易感性的相关性研究，基因组学与应用生物学，2021，40(2): 841-848.

12. 李铃，彭瑞，王红艳，卢磊，SMAD4错义突变与先天性心脏病易感性的相关性研究，基因组学与应用生物学，2021，40 (1): 395-399.

13. Lele Kuang, Bin Liu, Rui Peng, Di Xi and Yuping Gao. A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures, International Journal of Clinical and Experimental Pathology, 2020, 13(8): 2137-2142. 

14. Hailing Yin, Rui Peng, Zhongzhong Chen, Hongyan Wang, Ting Zhang and Yufang Zheng. WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways, Journal of Human Genetics, 2020. 

15. 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. 

16. Mengjiao Zhu^#, Xiaoyun Ma^#, Peicheng Ding, Hanfei Tang, Rui Peng, Lei Lu, Peiqiang Li, Bin Qiao, Xueyan Yang, Yufang Zheng, Hongyan Wang, Yunqian Gao and Fengshan Chen. Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort, Journal of Human Genetics, 2019, 64: 427-435.

17. Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jing Luo, Luming Yang, Yufang Zheng and Hongyan Wang. The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects , Molecular Cytogenetics, 2019, 12: 8. 

18. Linna Zhang^#, Yue Qin^#, Xiaohong Gong^#, Rui Peng, Chunquan Cai, Yufang Zheng, Yasong Du* and Hongyan Wang*. A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population, Translational Psychiatry, 2019, 9: 31. 

19. Yifang Xie, Anyun Ma, Boshi Wang, Rui Peng, Yingchun Jing, Richard Finnell, Bin Qiao, Yongming Wang, Hongyan Wang* and Yufang Zheng*. Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling, Clinical Science, 2019,133: 225-238.

20. 王鹤, 彭瑞, 段文元, 王红艳, 姚晓英，DACT1错义突变与先天性心脏病易感性的相关性研究，中国循证儿科杂志，2019, 14 (2): 118-122.

21. Zhongzhong Chen^#, Yunping Lei^#, Yufang Zheng^#, Vanessa Aguiar-Pulido, M. Elizabeth Ross, Rui Peng, Li Jin, Ting Zhang, Richard H. Finnell and Hongyan Wang. Threshold for neural tube defect risk by accumulated singleton loss-of-function variants, Cell Research, 2018, 28 (10): 1039-1041. 

22. Zhongzhong Chen^#, Yunping Lei^#, Xuanye Cao, Yufang Zheng, Fang Wang, Yihua Bao, Rui Peng, Richard H. Finnell*, Ting Zhang* and Hongyan Wang*. Genetic analysis of Wnt/PCP genes in neural tube defects, BMC Medical Genomics, 2018, 11:38.

23. Peiqiang Li^#, Lijuan Huang^#, Yufang Zheng, Xuedong Pan, Rui Peng, Yueming Jiang, Richard H. Finnell, Haijie Li, Bin Qiao and Hongyan Wang*. A missense mutation in TCN2 is associated with decreased risk for Congenital Heart Defects and may increase cellular uptake of vitamin B12 via Megalin, Oncotarget, 2017, 505: 154-167.

24. Xiangyu Zhou*, Weijia Zeng, Rui Peng and Hongyan Wang*. A hypoxia-inducible factor 1α null splice variant lacking exon 10, Cell Death & Disease, 2017, 8 (6): e2873.