中心概况Overview of the center

专家介绍

李小燕

2021-12-28

3-1. 教育经历:

2004.9-2010.7,中国科学院北京基因组研究所,理学博士,遗传学专业,导师:于军董伟

1999.9-2003.7,西安交通大学生命科学院,工学学士,生物工程专业

3-2. 工作经历: 

2015.8-至今 北京安贞医院临床分子诊断中心(心血管疾病临床分子诊断及分子机制研究)

2013.8-2015.8 北京市心肺血管疾病研究所

3-3. 代表性论著

1. Cheng L#., Li X#, Zhao, L., Wang, Z., Zhang, J., Liang, Z., & Wu, Y. (2020). Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework. International Journal of Genomics, 2020, 1-12.

2. Wee Y, Bhyan SB, Liu Y, Lu J, Li X*, Zhao M* (2018) The bioinformatics tools for the genome assembly and analysis based on third-generation sequencing. Brief Funct Genomics.

3. Wee Y, Wang T, Liu Y, Li X, Zhao M* (2018) A pan-cancer study of copy number gain and up-regulation in human oncogenes. Life Sci 211: 206-214

4. Wee Y, Liu Y, Lu J, Li X*, Zhao M* (2018) Identification of novel prognosis-related genes associated with cancer using integrative network analysis. Sci Rep 8: 3233

5. Wang Y#, Li X#, Li R, Yang Y, Du J *(2018) Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. Int J Genomics 2018: 1246516

6. Li XY#, Liu YN#, Lu JC, Zhao M*(2017) Integrative analysis to identify oncogenic gene expression changes associated with copy number variations of enhancer in ovarian cancer. Oncotarget 2017,8(53): 91558-91567.

7. Li TT, Li XY, Jia LX, Zhang J, Zhang WM, Li YL, Qi YF, Du J* (2016) Whole Transcriptome Analysis of Hypertension Induced Cardiac Injury Using Deep Sequencing. Cell Physiol Biochem 38: 670-82.

8. Li TT, Jia LX, Zhang WM, Li XY, Zhang J, Li YL, Li HH, Qi YF, Du J* (2016) Endoplasmic reticulum stress in bone marrow-derived cells prevents acute cardiac inflammation and injury in response to angiotensin II. Cell Death Dis 7: e2258

9. Piao C, Zhu Y, Zhang C, Xi X, Liu X, Zheng S, Li X, Guo J, Jia L, Nakanishi T, Cai T, Gu H, Du J* (2016) Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture. Clin Sci (Lond) 130: 1559-69

10. Liu X, Jiang T, Piao C, Li X, Guo J, Zheng S, Zhang X, Cai T, Du J* (2015) Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. Sci Rep 5: 11411

11. Guo J, Cai L, Jia L, Li X, Xi X, Zheng S, Liu X, Piao C, Liu T, Sun Z, Cai T, Du J* (2015) Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. Sci Rep 5: 13115

12. Qiao L, Zhang X, Han X, Zhang L, Li X, Zhan H, Ma J, Luo P, Zhang W, Cui L, Li X*, Chang Z* (2015) A genome-wide analysis of the auxin/indole-3-acetic acid gene family in hexaploid bread wheat (Triticum aestivum L.). Front Plant Sci 6: 770

13. Liu G, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X* (2014) A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. Gene 533: 547-553

14. Li X, Wang X, Zhang S, Liu D, Duan Y*, Dong W* (2012) Identification of soybean microRNAs involved in soybean cyst nematode infection by deep sequencing. PLoS One 7: e39650

15. Li X, Wang X, Zhang S, Liu D, Duan Y*, Dong W* (2011) Comparative profiling of the transcriptional response to soybean cyst nematode infection of soybean roots by deep sequencing. Chinese Science Bulletin 56: 1904-1911

16. Zhang S#, Feng H#, Li X#, Jin Y, Dong W (2010) Genome research profile of two Cordyceps sinensis cDNA libraries. Chinese Science Bulletin 55: 1403-1411

3-4. 课题项目

1. 国家自然科学青年基金,81400846 《应用外显子测序技术鉴定原发性高尿酸血症及痛风的易感基因》(2015/1/1-2017/12/31),主持。

2. 国家自然基金面上项目,《基于高通量测序技术的胸主动脉瘤和夹层新致病基因筛查及功能研究》(2018.1.1-2021.12.31),参与。

3. 北京市财政项目,《心血管疾病早期预警早期诊断研究平台建设》(2015);课题主管。

4. 北京市财政项目,《心血管疾病分子遗传学临床转化与应用》(2016);课题主管。