anyu@fudan.edu.cn

摘要

研究方向:复杂疾病的遗传机制和病因学探讨，主要是儿童早期发育障碍相关疾病的遗传机制的研究，这些疾病包括结构和功能性的出生缺陷，利用基因组学结合临床特征和流行病学研究阐明基因型和表现型的关系，发掘相关遗传机制和致病机制，为进一步建立转化医学研究和遗传咨询奠定基础。

1. An Y, Duan WY, Huang GY, Chen XL, Li L, Nie CX, Hou J, Gui YH, Wu YM, Zhang F. Shen YP, Wu BL, Wang HY. Genome-wide Copy Number Variant Analysis for Congenital Ventricular Septal Defects in Chinese Han Population. BMC Medical Genomics. 2016, 9: 2-10.

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.

3. Ting Zhang, Xinbao Xie, Dan Xu, Wei Lu, Chenbin Dong, Rencao Liu, Tianjiao Yang, Xiaohong Wang, Yu An*, Hui Yu*, Beckwith-Wiedemann syndrome: first epigenetic confirmed case report in China，Clinical Genetics. 2013 Dec;84(6):603-4.

4. 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

5. Shen YP*, An Y* and Wu BL. Standardization and diversification of copy number microarray testing for clinical diagnostics–implications of the cross-platform/algorithm study on clinical diagnostic chromosomal microarray analysis. Clin Chem. 2011 Oct; 57(10):1354-6.