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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: liu r. 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.
Homozygous variants in PANX1 cause human oocyte death and female infertility.
Wang W, Qu R, Dou Q, Wu F, Wang W, Chen B, Mu J, Zhang Z, Zhao L, Zhou Z, Dong J, Zeng Y, Liu R, Du J, Zhu S, Li Q, He L, Jin L, Wang L, Sang Q. Wang W, et al. Among authors: liu r. Eur J Hum Genet. 2021 Sep;29(9):1396-1404. doi: 10.1038/s41431-020-00807-4. Epub 2021 Jan 25. Eur J Hum Genet. 2021. PMID: 33495594 Free PMC article.
Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility.
Zhao L, Guan Y, Meng Q, Wang W, Wu L, Chen B, Hu J, Zhu J, Zhang Z, Mu J, Chen Y, Sun Y, Wu T, Wang W, Zhou Z, Dong J, Zeng Y, Liu R, Li Q, Du J, Kuang Y, Sang Q, Wang L. Zhao L, et al. Among authors: liu r. Front Cell Dev Biol. 2021 Apr 9;9:647130. doi: 10.3389/fcell.2021.647130. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33898437 Free PMC article.
Genetic screening in patients with ovarian dysfunction.
Zeng Y, Li L, Li Q, Hu J, Zhang N, Wu L, Yan Z, Qu R, Dong J, Liu R, Choy KW, Wang L, Sang Q, Guan Y, Chen B. Zeng Y, et al. Among authors: liu r. Clin Genet. 2023 Mar;103(3):352-357. doi: 10.1111/cge.14267. Epub 2022 Nov 22. Clin Genet. 2023. PMID: 36373164
ADGB variants cause asthenozoospermia and male infertility.
Qu R, Zhang Z, Wu L, Li Q, Mu J, Zhao L, Yan Z, Wang W, Zeng Y, Liu R, Dong J, Li Q, Sun X, Wang L, Sang Q, Chen B, Kuang Y. Qu R, et al. Among authors: liu r. Hum Genet. 2023 Jun;142(6):735-748. doi: 10.1007/s00439-023-02546-0. Epub 2023 Mar 30. Hum Genet. 2023. PMID: 36995441
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