Oocyte maturation defect

[1]. Biaobang Chen, et al. Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Am J Hum Genet. 2017 Oct 5;101(4):609-615. [Content Brief]

[2]. Can Dai, et al. ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. Genet Med. 2019 Feb;21(2):431-440. [Content Brief]

[3]. Hua-Lin Huang, et al. Mutant ZP1 in familial infertility. N Engl J Med. 2014 Mar 27;370(13):1220-6. [Content Brief]

[4]. Qing Sang, et al. A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019 Mar 27;11(485):eaav8731. [Content Brief]

[5]. Qing Sang, et al. Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. Am J Hum Genet. 2018 Apr 5;102(4):649-657. [Content Brief]

[6]. Ruizhi Feng, et al. Mutations in TUBB8 and Human Oocyte Meiotic Arrest. N Engl J Med. 2016 Jan 21;374(3):223-32. [Content Brief]

[7]. Sateesh Maddirevula, et al. ASTL is mutated in female infertility. Hum Genet. 2022 Jan;141(1):49-54. [Content Brief]

[8]. Tailai Chen, et al. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Am J Hum Genet. 2017 Sep 7;101(3):459-465. [Content Brief]

[9]. Wei Zheng, et al. Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. Am J Hum Genet. 2020 Jul 2;107(1):24-33. [Content Brief]

[10]. Weijie Wang, et al. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021 Jul 19;36(8):2392-2402. [Content Brief]

[11]. Wenjing Wang, et al. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. J Med Genet. 2020 Mar;57(3):187-194. [Content Brief]

[12]. Zhihua Zhang, et al. Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Am J Hum Genet. 2020 Jul 2;107(1):15-23. [Content Brief]