Zhao R - Search Results

1

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.

Zhao R, Liu M, Dai E, Chen C, Lv L, Peng L, He Y, Li S, Yang M. Zhao R, et al. FASEB J. 2024 Feb 29;38(4):e23493. doi: 10.1096/fj.202302387R. FASEB J. 2024. PMID: 38363575

2

Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy.

Chen C, Yang M, Huang L, Zhao R, Sundaresan P, Zhu X, Li S, Yang Z. Chen C, et al. Among authors: zhao r. Genet Test Mol Biomarkers. 2021 Jun;25(6):399-404. doi: 10.1089/gtmb.2021.0019. Epub 2021 Jun 2. Genet Test Mol Biomarkers. 2021. PMID: 34077673

3

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.

Li S, Yang M, He Y, Jiang X, Zhao R, Liu W, Huang L, Shi Y, Li X, Sun K, Yang Y, Sundaresan P, Zhao P, Yang Z, Zhu X. Li S, et al. Among authors: zhao r, zhao p. J Genet Genomics. 2022 Jun;49(6):590-594. doi: 10.1016/j.jgg.2021.11.010. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896607 No abstract available.

4

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.

Peng Y, Zhao R, Dai E, Peng L, He Y, Li S, Yang M. Peng Y, et al. Among authors: zhao r. Eur J Ophthalmol. 2022 Nov;32(6):3220-3226. doi: 10.1177/11206721221074209. Epub 2022 Jan 17. Eur J Ophthalmol. 2022. PMID: 35037517

5

Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy.

Zhao R, Wang S, Zhao P, Dai E, Zhang X, Peng L, He Y, Yang M, Li S, Yang Z. Zhao R, et al. Among authors: zhao p. Clin Exp Ophthalmol. 2022 May;50(4):441-448. doi: 10.1111/ceo.14037. Epub 2022 Feb 7. Clin Exp Ophthalmol. 2022. PMID: 35133048

6

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.

Wang Y, Zhao R, Dai E, Peng L, He Y, Yang M, Li S. Wang Y, et al. Among authors: zhao r. Genet Test Mol Biomarkers. 2022 Mar;26(3):146-151. doi: 10.1089/gtmb.2021.0223. Epub 2022 Mar 3. Genet Test Mol Biomarkers. 2022. PMID: 35244470

7

Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.

He Y, Yang M, Zhao R, Peng L, Dai E, Huang L, Zhao P, Li S, Yang Z. He Y, et al. Among authors: zhao r, zhao p. J Med Genet. 2023 Feb;60(2):174-182. doi: 10.1136/jmedgenet-2021-108259. Epub 2022 Mar 31. J Med Genet. 2023. PMID: 35361685

8

A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.

Peng L, Dai E, Xiao H, Zhao R, He Y, Li S, Yang M, Yang Z, Zhao P. Peng L, et al. Among authors: zhao r, zhao p. Mol Genet Genomic Med. 2022 Jun;10(6):e1949. doi: 10.1002/mgg3.1949. Epub 2022 Apr 13. Mol Genet Genomic Med. 2022. PMID: 35417085 Free PMC article.

9

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.

Yang M, Li S, Huang L, Zhao R, Dai E, Jiang X, He Y, Lu J, Peng L, Liu W, Zhang Z, Jiang D, Zhang Y, Jiang Z, Yang Y, Zhao P, Zhu X, Ding X, Yang Z. Yang M, et al. Among authors: zhao r, zhao p. JCI Insight. 2022 Jul 22;7(14):e158428. doi: 10.1172/jci.insight.158428. JCI Insight. 2022. PMID: 35700046 Free PMC article.

10

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.

Zhao R, Dai E, Wang S, Zhang X, He Y, Peng L, Zhao P, Yang Z, Yang M, Li S. Zhao R, et al. Among authors: zhao p. Clin Genet. 2023 Mar;103(3):320-329. doi: 10.1111/cge.14273. Epub 2022 Dec 13. Clin Genet. 2023. PMID: 36453149

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