| 1 | SHOC1, SPGF47 |
| Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia. | |
| Yao C, Yang C, Zhao L, Li P, Tian R, Chen H, Guo Y, Huang Y, Zhi E, Zhai J, Sun H, Zhang J, Hong Y, Zhang L, Ji Z, Zhang F, Zhou Z, Li Z. | |
| J Med Genet. Sep 8:jmedgenet-2020-107042. doi: 10.1136/jmedgenet-2020-107042. Online ahead of print 2020 | |
| 2 | DZIP1, SPGF47 |
| Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF | |
| Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y. | |
| J Med Genet. Jul;57(7):445-453. doi: 10.1136/jmedgenet-2019-106479. Epub 2020 Feb 12. 2020 | |