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Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest.
Zhao L, Li Q, Kuang Y, Xu P, Sun X, Meng Q, Wang W, Zeng Y, Chen B, Fu J, Dong J, Zhu J, Luo Y, Gu H, Li C, Li C, Wu L, Mao X, Fan H, Liu R, Zhang Z, Li Q, Du J, He L, Jin L, Wang L, Sang Q. Zhao L, et al. Among authors: mao x. Genet Med. 2022 Nov;24(11):2274-2284. doi: 10.1016/j.gim.2022.07.027. Epub 2022 Aug 27. Genet Med. 2022. PMID: 36029299 Free article.
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L. Xu Y, et al. Among authors: mao x. Am J Hum Genet. 2016 Sep 1;99(3):744-752. doi: 10.1016/j.ajhg.2016.06.024. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545678 Free PMC article.
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.
Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L. Sang Q, et al. Among authors: mao x. Am J Hum Genet. 2018 Apr 5;102(4):649-657. doi: 10.1016/j.ajhg.2018.02.015. Epub 2018 Mar 29. Am J Hum Genet. 2018. PMID: 29606300 Free PMC article.
Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.
Wang X, Song D, Mykytenko D, Kuang Y, Lv Q, Li B, Chen B, Mao X, Xu Y, Zukin V, Mazur P, Mu J, Yan Z, Zhou Z, Li Q, Liu S, Jin L, He L, Sang Q, Sun Z, Dong X, Wang L. Wang X, et al. Among authors: mao x. Reprod Biomed Online. 2018 Jun;36(6):698-704. doi: 10.1016/j.rbmo.2018.03.009. Epub 2018 Mar 21. Reprod Biomed Online. 2018. PMID: 29606347
The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility.
Chen B, Wang W, Peng X, Jiang H, Zhang S, Li D, Li B, Fu J, Kuang Y, Sun X, Wang X, Zhang Z, Wu L, Zhou Z, Lyu Q, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Sang Q, Wang L. Chen B, et al. Among authors: mao x. Eur J Hum Genet. 2019 Feb;27(2):300-307. doi: 10.1038/s41431-018-0283-3. Epub 2018 Oct 8. Eur J Hum Genet. 2019. PMID: 30297906 Free PMC article.
6,953 results