个人简介
2008年mg4355电子娱乐官网遗传学博士毕业，研究方向人类和医学遗传学，参与复杂疾病的遗传机制和遗传流行病学研究；2009年入职mg4355电子娱乐官网生物医学研究院分子病理与出生缺陷研究中心；2015年-2017年哈佛医学院麻省总院基因组医学中心神经精神遗传组访问学者。2018年加入mg4355电子娱乐官网人类表型组研究院，mg4355电子娱乐官网人类遗传学与人类学系，副研究员，硕士生导师。
研究方向
采用遗传学，基因组学，遗传流行病学，功能基因组学以及iPSC诱导分化的神经元细胞模型，基因编辑小鼠模型等方法和策略，研究生命周期早期发育障碍疾病的遗传机制和致病机制。
- 儿童发育障碍遗传机制研究
- 神经发育相关基因的功能研究
- 基因型和表现型的关系的研究
- 基因组水平变异的致病机制研究
获奖情况
2007年mg4355电子娱乐官网吴张令昭奖
代表性论文
- An, Yu*; Zhang, Linna; Liu, Wenwen; Jiang, Yunyun; Chen, Xue; Lan, Xiaoping; Li, Gan; Hang, Qiang; Wang, Jian; Gusella, James F.; Du, Yasong*; Shen, Yiping*; De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth , Human Genetics, 2020, 139: 499-512.
- Jing Wu, J. Yang,Y, He, Y., Li, Q., Wang, X., Sun, CJ., Wang, LH., An, Y*., Luo, FH*.,EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. BMC Hum. Genomics 13, 1–14 (2019).
- Du YJ, Shen Y, Wang YX, Sun YM, Liu FT, Chen C, Chen K, Zuo CT, Wu JJ, Wang J, An Y*, Yu H* .Clinical variability in Chinese families with Parkinson disease and SNCA duplication, including the shortest 139kb duplication. Parkinsonism Relat Disord. 2019 Sep 28;68 :60-62.
- An, Yu; Duan, Wenyuan; Huang, Guoying; Chen, Xiaoli; Li, Li; Nie, Chenxia; Hou, Jia; Gui, Yonghao; Wu, Yiming; Zhang, Feng; Shen, Yiping; Wu, Bailin; Wang, Hongyan, Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population, BMC Medical Genomics, 2016, 9: 2
- Du X*, Yu An*, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.BMC Med Genet. 2014 May 29;15:62.
- An Y*, Amr SS*, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162(8):832-40