1. Esmaeilzadeh, Hossein, Bordbar, Mohammad Reza, Hojaji, Zahra, Fardaei, Majid, Faghihi, Mohammad Ali. 2019. An immunocompetent patient with a nonsense mutation in NHEJ1 gene. In BMC medical genetics, 20, 45. doi:10.1186/s12881-019-0784-0. https://pubmed.ncbi.nlm.nih.gov/30898087/
2. Marelli, Stefano P, Rizzi, Rita, Paganelli, Alessandra, Brambilla, Paola G, Polli, Michele. 2022. Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy. In Veterinary record open, 9, e26. doi:10.1002/vro2.26. https://pubmed.ncbi.nlm.nih.gov/35127102/
3. Carrillo, Jaime, Calvete, Oriol, Pintado-Berninches, Laura, Benitez, Javier, Perona, Rosario. . Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening. In Human molecular genetics, 26, 1900-1914. doi:10.1093/hmg/ddx098. https://pubmed.ncbi.nlm.nih.gov/28369633/
4. Arora, Mohit, Kumari, Sarita, Singh, Jay, Chopra, Anita, Chauhan, Shyam S. 2020. PAXX, Not NHEJ1 Is an Independent Prognosticator in Colon Cancer. In Frontiers in molecular biosciences, 7, 584053. doi:10.3389/fmolb.2020.584053. https://pubmed.ncbi.nlm.nih.gov/33195430/
5. Wormser, Ohad, Perez, Yonatan, Dolgin, Vadim, Akler, Gidon, Birk, Ohad S. 2023. IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma. In NPJ genomic medicine, 8, 22. doi:10.1038/s41525-023-00364-x. https://pubmed.ncbi.nlm.nih.gov/37580330/
6. Li, Guoqing, Yang, Xi, Wang, Lingbo, Zhang, Xiaojin, Zhang, Feng. 2021. Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice. In Journal of medical genetics, 59, 579-588. doi:10.1136/jmedgenet-2020-107398. https://pubmed.ncbi.nlm.nih.gov/33888552/
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