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An Yu
Life Science
Fudan University
Shanghai
Language: Chinese, English
Genetics
Genomics
Genetic Epidemiology
Functional Genomics
Ipsc
Neuronal Cell Models
Gene Editing
Mouse Models
Developmental Disorders
Pathogenic Mechanisms
Areas of Focus
- Genetic Mechanisms of Early Developmental Disorders
- Functional Studies of Neurodevelopmental Genes
- Genotype-Phenotype Relationship Studies
- Pathogenic Mechanisms of Genomic Variations
Work Experience
- 2009 - Fudan University - Molecular Pathology and Birth Defects Research Center, Biomedical Research Institute
- 2015-2017 - Harvard Medical School, Massachusetts General Hospital - Visiting Scholar, Genomic Medicine Center, Neuropsychiatric Genetics Group
- 2018 - Fudan University - Associate Researcher, Institute of Human Phenome, Department of Human Genetics and Anthropology
Academic Background & Achievements
- 2008 PhD in Genetics: Fudan University
- 2007 Wu Zhang Ling Zhao Award: Fudan University
Publications
- De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth, 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, 2020
- EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway, Jing Wu, J. Yang, Y, He, Y., Li, Q., Wang, X., Sun, CJ., Wang, LH., An, Y., Luo, FH, 2019
- Clinical variability in Chinese families with Parkinson disease and SNCA duplication, including the shortest 139kb duplication, Du YJ, Shen Y, Wang YX, Sun YM, Liu FT, Chen C, Chen K, Zuo CT, Wu JJ, Wang J, An Y, Yu H, 2019
- Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population, 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, 2016
- 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, Du X, Yu An, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y, 2014
- SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay, 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, 2013
Awards
- Wu Zhang Ling Zhao Award (2007): Fudan University
