1. Nagai, Masayoshi, Iemura, Kenji, Kikkawa, Takako, Osumi, Noriko, Tanaka, Kozo. 2022. Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype. In Brain communications, 4, fcac220. doi:10.1093/braincomms/fcac220. https://pubmed.ncbi.nlm.nih.gov/36106092/
2. Xu, Jinghan, Li, Jingjing, Jiao, Zhihui, Kong, Xiangdong, Wang, Li. . [Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 40, 47-52. doi:10.3760/cma.j.cn511374-20220517-00333. https://pubmed.ncbi.nlm.nih.gov/36585000/
3. Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Isidor, Bertrand, Chung, Wendy K. 2021. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. In Cold Spring Harbor molecular case studies, 7, . doi:10.1101/mcs.a006092. https://pubmed.ncbi.nlm.nih.gov/34021018/
4. Yoshizaki, Yujiro, Ouchi, Yunosuke, Kurniawan, Dicky, Iemura, Kenji, Tanaka, Kozo. 2024. CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency. In Scientific reports, 14, 31904. doi:10.1038/s41598-024-83435-y. https://pubmed.ncbi.nlm.nih.gov/39738383/
5. Asakura, Yuta, Osaka, Hitoshi, Aoi, Hiromi, Matsumoto, Naomichi, Yamagata, Takanori. 2021. Intellectual disability and microcephaly associated with a novel CHAMP1 mutation. In Human genome variation, 8, 34. doi:10.1038/s41439-021-00165-7. https://pubmed.ncbi.nlm.nih.gov/34404773/
6. Wang, Ming-Mei, Zhu, Deng-Na, Li, San-Song, Zhao, Yun-Xia, Liu, Han-You. . [Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report]. In Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 22, 1131-1134. doi:. https://pubmed.ncbi.nlm.nih.gov/33059813/