| 中国学者近期发表的论文 |
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| 1. | Genome-wide analysis of human SNPs at long intergenic noncoding RNAs.
Author: Chen G, Qiu C, Zhang Q, Liu B, Cui Q.
Journal: Hum Mutat. 2013 Feb;34(2):338-44. doi: 10.1002/humu.22239. Epub 2012 Nov 27. | | 2. | Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populations.
Author: Hou S, Xiao X, Zhou Y, Zhu X, Li F, Kijlstra A, Yang P.
Journal: Hum Mutat. 2013 Jan;34(1):74-8. doi: 10.1002/humu.22208. Epub 2012 Oct 11. | | 3. | Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
Author: Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS.
Journal: Hum Mutat. 2012 Dec;33(12):1635-8. doi: 10.1002/humu.22174. Epub 2012 Aug 24. | | 4. | CNVD: text mining-based copy number variation in disease database.
Author: Qiu F, Xu Y, Li K, Li Z, Liu Y, DuanMu H, Zhang S, Li Z, Chang Z, Zhou Y, Zhang R, Zhang S, Li C, Zhang Y, Liu M, Li X.
Journal: Hum Mutat. 2012 Nov;33(11):E2375-81. doi: 10.1002/humu.22163. Epub 2012 Jul 23. | | 5. | Identification of novel rare mutations of DACT1 in human neural tube defects.
Author: Shi Y, Ding Y, Lei YP, Yang XY, Xie GM, Wen J, Cai CQ, Li H, Chen Y, Zhang T, Wu BL, Jin L, Chen YG, Wang HY.
Journal: Hum Mutat. 2012 Oct;33(10):1450-5. doi: 10.1002/humu.22121. Epub 2012 Jun 19. | | 6. | Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.
Author: Qiu Q, Li R, Jiang P, Xue L, Lu Y, Song Y, Han J, Lu Z, Zhi S, Mo JQ, Guan MX.
Journal: Hum Mutat. 2012 Aug;33(8):1285-93. doi: 10.1002/humu.22109. Epub 2012 May 30. | | 7. | More single-nucleotide mutations surround small insertions than small deletions in primates.
Author: Huang S, Yu T, Chen Z, Yuan S, Chen S, Xu A.
Journal: Hum Mutat. 2012 Jul;33(7):1099-106. doi: 10.1002/humu.22085. Epub 2012 Apr 9. | | 8. | A frequent somatic mutation in CD274 3'-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding.
Author: Wang W, Sun J, Li F, Li R, Gu Y, Liu C, Yang P, Zhu M, Chen L, Tian W, Zhou H, Mao Y, Zhang L, Jiang J, Wu C, Hua D, Chen W, Lu B, Ju J, Zhang X.
Journal: Hum Mutat. 2012 Mar;33(3):480-4. doi: 10.1002/humu.22014. Epub 2012 Jan 17. | | 9. | A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
Author: Li XQ, Cai HC, Zhou SY, Yang JH, Xi YB, Gao XB, Zhao WJ, Li P, Zhao GY, Tong Y, Bao FC, Ma Y, Wang S, Yan YB, Lu CL, Ma X.
Journal: Hum Mutat. 2012 Feb;33(2):391-401. doi: 10.1002/humu.21648. Epub 2011 Dec 8. | | 10. | Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis.
Author: Gong J, Tong Y, Zhang HM, Wang K, Hu T, Shan G, Sun J, Guo AY.
Journal: Hum Mutat. 2012 Jan;33(1):254-63. doi: 10.1002/humu.21641. Epub 2011 Nov 23. |
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