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Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Among authors: wu s. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.
The phenotypic variability of HK1-associated retinal dystrophy.
Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. Yuan Z, et al. Among authors: wu s. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3. Sci Rep. 2017. PMID: 28765615 Free PMC article.
Ocular Features in Chinese Patients with Blau Syndrome.
Wu S, Zhong L, Sun Z, Zhu T, Song H, Sui R. Wu S, et al. Ocul Immunol Inflamm. 2020;28(1):79-85. doi: 10.1080/09273948.2019.1569239. Epub 2019 Feb 26. Ocul Immunol Inflamm. 2020. PMID: 30806112
TNFRSF21 mutations cause high myopia.
Pan H, Wu S, Wang J, Zhu T, Li T, Wan B, Liu B, Luo Y, Ma X, Sui R, Wang B. Pan H, et al. Among authors: wu s. J Med Genet. 2019 Oct;56(10):671-677. doi: 10.1136/jmedgenet-2018-105684. Epub 2019 Jun 12. J Med Genet. 2019. PMID: 31189563
40,493 results
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