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Page 1
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: soens zt. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3. Sci Rep. 2017. PMID: 28765615 Free PMC article.
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. 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.
11 results