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Bio
主要从事人类遗传病的基因治疗、诊断与产前诊断研究。利用核糖体基因(rDNA)打靶载体首次将治疗基因高效靶入人胚干细胞和成体干细胞,成功实现22号内含子倒位型血友病A病人特异性iPSC的原位基因修复。2005年在国际上最早将高分辨SNP Array用于遗传病诊断研究;2007年克隆耳垢基因ABCC11,首次发现单个SNP决定人类可见性状;2010年起参与在国内率先完成母血DNA新一代测序全染色体组无创产前检测临床验证、研发基于高通量测序的CNV检测技术用于染色体/基因组病诊断与产前诊断和cSMART技术用于单基因病无创产前诊断。
Research Interests
Papers共 274 篇Author StatisticsCo-AuthorSimilar Experts
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 7 (2024): 3635
Qinlin Huang, Zhongjie Wang,Yanling Teng,Wen Zhang,Juan Wen, Huimin Zhu,Desheng Liang,Lingqian Wu, Zhuo Li
Frontiers in genetics (2024): 1415811-1415811
ANALYTICA CHIMICA ACTA (2024): 342693-342693
Journal of neurophysiologyno. 2 (2024): 338-359
International journal of molecular sciencesno. 10 (2023): 9013-9013
Frontiers in genetics (2023): 1115831
Thrombosis and haemostasis (2023)
Lijuan Pan, Jiayu Wu,Desheng Liang,Jing Yuan, Jue Wang, Yinchen Shen, Junjie Lu, Aihua Xia, Jinchen Li,Lingqian Wu
American journal of obstetrics & gynecology MFMno. 10 (2023): 101072-101072
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Author Statistics
#Papers: 267
#Citation: 3499
H-Index: 28
G-Index: 50
Sociability: 7
Diversity: 1
Activity: 3
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