1. Aprea, I, Wilken, A, Krallmann, C, Raidt, J, Omran, H. 2023. Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility. In Frontiers in genetics, 14, 1117821. doi:10.3389/fgene.2023.1117821. https://pubmed.ncbi.nlm.nih.gov/36873931/
2. Li, Dong-Yan, Yang, Xiao-Xuan, Tu, Chao-Feng, Zhang, Qian-Jun, Du, Juan. . Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans. In Asian journal of andrology, 24, 359-366. doi:10.4103/aja202154. https://pubmed.ncbi.nlm.nih.gov/34755699/
3. Tan, Chen, Meng, Lanlan, Lv, Mingrong, Lin, Ge, Tan, Yue-Qiu. 2021. Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice. In American journal of human genetics, 109, 157-171. doi:10.1016/j.ajhg.2021.11.022. https://pubmed.ncbi.nlm.nih.gov/34932939/
4. Lehti, Mari S, Henriksson, Henna, Rummukainen, Petri, Kotaja, Noora, Sironen, Anu. 2018. Cilia-related protein SPEF2 regulates osteoblast differentiation. In Scientific reports, 8, 859. doi:10.1038/s41598-018-19204-5. https://pubmed.ncbi.nlm.nih.gov/29339787/
5. Lu, Wenqing, Li, Yong, Meng, Lanlan, Wu, Longxiang, Du, Juan. 2024. Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. In Journal of assisted reproduction and genetics, 41, 1485-1498. doi:10.1007/s10815-024-03106-9. https://pubmed.ncbi.nlm.nih.gov/38568462/
6. Sironen, A, Uimari, P, Iso-Touru, T, Vilkki, J. 2011. L1 insertion within SPEF2 gene is associated with increased litter size in the Finnish Yorkshire population. In Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie, 129, 92-7. doi:10.1111/j.1439-0388.2011.00977.x. https://pubmed.ncbi.nlm.nih.gov/22394230/
7. Sironen, A, Fischer, D, Laiho, A, Gyenesei, A, Vilkki, J. 2014. A recent L1 insertion within SPEF2 gene is associated with changes in PRLR expression in sow reproductive organs. In Animal genetics, 45, 500-7. doi:10.1111/age.12153. https://pubmed.ncbi.nlm.nih.gov/24712415/
8. Liu, Chunyu, Lv, Mingrong, He, Xiaojin, Zhang, Feng, Cao, Yunxia. 2019. Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. In Journal of medical genetics, 57, 31-37. doi:10.1136/jmedgenet-2019-106011. https://pubmed.ncbi.nlm.nih.gov/31048344/
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