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A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, Liu C, Cheng H, Zhu F, Tian S, Elshewy N, Ni X, Tan Q, Xu X, Zhou P, Wei Z, Zhang F, He X, Cao Y. Wu H, et al. Among authors: shen q. J Assist Reprod Genet. 2020 Jun;37(6):1421-1429. doi: 10.1007/s10815-020-01779-6. Epub 2020 Apr 20. J Assist Reprod Genet. 2020. PMID: 32314195 Free PMC article.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y. He X, et al. Among authors: shen q. Am J Hum Genet. 2020 Sep 3;107(3):514-526. doi: 10.1016/j.ajhg.2020.07.010. Epub 2020 Aug 12. Am J Hum Genet. 2020. PMID: 32791035 Free PMC article.
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Touré A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C. Shen Q, et al. Hum Genet. 2021 Sep;140(9):1367-1377. doi: 10.1007/s00439-021-02313-z. Epub 2021 Jul 13. Hum Genet. 2021. PMID: 34255152
6,313 results