Li S - Search Results

1

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.

Li S, Yang M, Liu W, Liu Y, Zhang L, Yang Y, Sundaresan P, Yang Z, Zhu X. Li S, et al. Genet Test Mol Biomarkers. 2018 Feb;22(2):109-114. doi: 10.1089/gtmb.2017.0223. Genet Test Mol Biomarkers. 2018. PMID: 29425069

2

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Di Y, Huang L, Sundaresan P, Li S, Kim R, Ballav Saikia B, Qu C, Zhu X, Zhou Y, Jiang Z, Zhang L, Lin Y, Zhang D, Li Y, Zhang H, Yin Y, Lu F, Zhu X, Yang Z. Di Y, et al. Among authors: li s, li y. Sci Rep. 2016 Jan 20;6:19432. doi: 10.1038/srep19432. Sci Rep. 2016. PMID: 26787102 Free PMC article.

3

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.

Zhang L, Yang Y, Li S, Tai Z, Huang L, Liu Y, Zhu X, Di Y, Qu C, Jiang Z, Li Y, Zhang G, Kim R, Sundaresan P, Yang Z, Zhu X. Zhang L, et al. Among authors: li s, li y. Genet Test Mol Biomarkers. 2016 Jul;20(7):346-51. doi: 10.1089/gtmb.2015.0322. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27228167

4

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.

Yang Y, Zhang L, Li S, Zhu X, Sundaresan P. Yang Y, et al. Among authors: li s. Genet Test Mol Biomarkers. 2017 Apr;21(4):252-258. doi: 10.1089/gtmb.2016.0203. Epub 2017 Feb 27. Genet Test Mol Biomarkers. 2017. PMID: 28384041

5

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.

Liu YQ, Zhu X, Li SJ, Yang YM, Yang M, Zhao PQ, Zhu XJ. Liu YQ, et al. Yi Chuan. 2017 Mar 20;39(3):241-249. doi: 10.16288/j.yczz.16-339. Yi Chuan. 2017. PMID: 28420620

6

Loss of Tmem30a leads to photoreceptor degeneration.

Zhang L, Yang Y, Li S, Zhang S, Zhu X, Tai Z, Yang M, Liu Y, Guo X, Chen B, Jiang Z, Lu F, Zhu X. Zhang L, et al. Among authors: li s. Sci Rep. 2017 Aug 24;7(1):9296. doi: 10.1038/s41598-017-09506-5. Sci Rep. 2017. PMID: 28839191 Free PMC article.

7

Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa.

Yang M, Li S, Liu W, Yang Y, Zhang L, Zhang S, Jiang Z, Yang Z, Zhu X. Yang M, et al. Among authors: li s. Genet Test Mol Biomarkers. 2018 Mar;22(3):165-169. doi: 10.1089/gtmb.2017.0248. Epub 2018 Feb 13. Genet Test Mol Biomarkers. 2018. PMID: 29437494

8

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.

Zhang S, Li J, Li S, Yang Y, Yang M, Yang Z, Zhu X, Zhang L. Zhang S, et al. Among authors: li s, li j. Ophthalmic Genet. 2018 Aug;39(4):487-491. doi: 10.1080/13816810.2018.1461912. Epub 2018 Apr 25. Ophthalmic Genet. 2018. PMID: 29693493

9

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z. Zhou Y, et al. Among authors: li s. Hum Mol Genet. 2018 Jul 15;27(14):2563-2572. doi: 10.1093/hmg/ddy165. Hum Mol Genet. 2018. PMID: 29726989

10

A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa.

Zhou Y, Li S, Huang L, Yang Y, Zhang L, Yang M, Liu W, Ramasamy K, Jiang Z, Sundaresan P, Zhu X, Yang Z. Zhou Y, et al. Among authors: li s. Hum Mol Genet. 2018 Jul 15;27(14):2587. doi: 10.1093/hmg/ddy228. Hum Mol Genet. 2018. PMID: 29931334 No abstract available.

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