安宇 - 复旦大学 - 人类表型组研究院

个人简介

工作经历 2008年，获得复旦大学遗传学博士，专业方向：遗传学 2009-2017年，复旦大学生物医学研究院分子病理中心和出生缺陷中心 2015年-2017年，美国哈佛医学院麻省总院基因组医学中心，访问学者/博士后研究 2018年- 复旦大学生命科学学院人类遗传与人类学系 2019年-至今复旦大学人类表型组研究院获奖情况上海市教育委员会2022年上海市优秀成果二等奖 2021年复旦大学研究生教学一等奖（遗传咨询教学课程设计和授课）

研究领域

遗传性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。主要研究方向：出生缺陷的遗传致病机制神经发育障碍的分子致病机理基因型和表现型的关系研究：基因突变谱鉴定和遗传咨询研究

近期论文

查看导师新发文章（温馨提示：请注意重名现象，建议点开原文通过作者单位确认）

Guo Ruiji; Xia Fang; Hailei Mao; Bin Sun; Jiateng Zhou; Yu An; Bin Wang, A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations., Frontier in Genetics, 2021, Oct(27): 731278. Sun, Yi-Min; Yu, Hui-Ling; Zhou, Xin-Yue; Xiong, Wei-Xi; Luo, Su-Shan; Chen, Chen; Liu, Feng-Tao; Zhao, Jue; Tang, Yi-Lin; Liang, Xiao-Niu; Yang, Yu-Jie; Shen, Bo; Shen, Yan; Yu, Wen-Bo; Ding, Zheng-Tong; An, Yu; Wu, Jian-Jun; Wang, Jian, Disease Progression in Patients with Parkin-Related Parkinson's Disease in a Longitudinal Cohort., Movement Disorders, 2020 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 , Hum Genet. 2020 Apr;139(4):499-512. Wu J, Yang Y, He Y, Li Q, Wang X, Sun C, Wang L, An Y*, Luo F*. EFTUD2 gene eficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. Hum Genomics. 2019 Dec 5;13(1):63. 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. 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. 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. 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 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.