Yin Y - Search Results

1

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q. Xu Y, et al. Among authors: yin y. Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18. Hum Genet. 2014. PMID: 24938718

2

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Chen Y, Zhang Q, Shen T, Xiao X, Li S, Guan L, Zhang J, Zhu Z, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Chen Y, et al. Among authors: yin y. Invest Ophthalmol Vis Sci. 2013 Jun 26;54(6):4351-7. doi: 10.1167/iovs.13-11606. Invest Ophthalmol Vis Sci. 2013. PMID: 23661368

3

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Huang L, et al. Among authors: yin y. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013. PLoS One. 2013. PMID: 23776498 Free PMC article.

4

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q. Li S, et al. Among authors: yin y. Int J Mol Med. 2014 Aug;34(2):573-7. doi: 10.3892/ijmm.2014.1797. Epub 2014 Jun 6. Int J Mol Med. 2014. PMID: 24913019

5

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q. Xu Y, et al. Among authors: yin y. Mol Vis. 2015 Apr 28;21:477-86. eCollection 2015. Mol Vis. 2015. PMID: 25999675 Free PMC article.

6

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Li J, Gao B, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q. Li J, et al. Among authors: yin y. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):4150-5. doi: 10.1167/iovs.14-16356. Invest Ophthalmol Vis Sci. 2015. PMID: 26114493

7

Identification of MFRP Mutations in Chinese Families with High Hyperopia.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yin Y, Guo X, Yang Z, Zhang Q. Xu Y, et al. Among authors: yin y. Optom Vis Sci. 2016 Jan;93(1):19-26. doi: 10.1097/OPX.0000000000000751. Optom Vis Sci. 2016. PMID: 26583794

8

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.

Ma X, Guan L, Wu W, Zhang Y, Zheng W, Gao YT, Long J, Wu N, Wu L, Xiang Y, Xu B, Shen M, Chen Y, Wang Y, Yin Y, Li Y, Xu H, Xu X, Li Y. Ma X, et al. Among authors: yin y. Sci Rep. 2015 Mar 18;5:9236. doi: 10.1038/srep09236. Sci Rep. 2015. PMID: 25783483 Free PMC article.

9

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y. Zhang C, et al. Among authors: yin y. J Invest Dermatol. 2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21. J Invest Dermatol. 2013. PMID: 23519333 Free article.

10

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. Colonna V, et al. Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88. Genome Biol. 2014. PMID: 24980144 Free PMC article.

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