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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S, Xiang J, Fan C, Asan, Shang X, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Guo F, Wang Y, Zhong W, Zhu Y, Wang Y, Chen C, Li Y, Huang H, Mao M, Yin Y, Wang J, Yang H, Xu X, Sun J, Peng Z. Zhao S, et al. Among authors: liu y. Eur J Hum Genet. 2019 Feb;27(2):254-262. doi: 10.1038/s41431-018-0253-9. Epub 2018 Oct 1. Eur J Hum Genet. 2019. PMID: 30275481 Free PMC article.
A splicing mutation in VPS4B causes dentin dysplasia I.
Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X. Yang Q, et al. Among authors: liu j, liu y, liu c. J Med Genet. 2016 Sep;53(9):624-33. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 May 31. J Med Genet. 2016. PMID: 27247351
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.
Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D, Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J, Xiong J, Li D, Wu X, Yuan H, Zhang W, Xu X. Xiong F, et al. Among authors: liu y, liu c. Hum Mutat. 2017 Jan;38(1):95-104. doi: 10.1002/humu.23130. Epub 2016 Oct 19. Hum Mutat. 2017. PMID: 27680507
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