1. Zhang, Fan, Chen, Shuqi, Chen, Yiling, Cen, Zhidong, Luo, Wei. 2023. Generation of an induced pluripotent stem cell line (ZJUi013-A) from a Familial cortical myoclonic tremor with epilepsy type 1 patient carrying (TTTCA)n insertion in the SAMD12 gene. In Stem cell research, 73, 103236. doi:10.1016/j.scr.2023.103236. https://pubmed.ncbi.nlm.nih.gov/37890330/
2. Lu, Guang-Hui, Zhao, Hui-Meng, Liu, Zi-Yuan, Shao, Run-Dong, Sun, Gang. 2021. LncRNA SAMD12-AS1 Promotes the Progression of Gastric Cancer via DNMT1/p53 Axis. In Archives of medical research, 52, 683-691. doi:10.1016/j.arcmed.2021.04.004. https://pubmed.ncbi.nlm.nih.gov/33962804/
3. Mahadevan, Radha, Bhoyar, Rahul C, Viswanathan, Natarajan, Sivasubbu, Sridhar, Kalyanaraman, Shantaraman. 2020. Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene. In Brain communications, 3, fcaa214. doi:10.1093/braincomms/fcaa214. https://pubmed.ncbi.nlm.nih.gov/33501421/
4. Cen, Zhidong, Jiang, Zhengwen, Chen, You, Xiao, Jianfeng, Luo, Wei. . Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. In Brain : a journal of neurology, 141, 2280-2288. doi:10.1093/brain/awy160. https://pubmed.ncbi.nlm.nih.gov/29939203/
5. Hu, Juan, Xie, Cong, Xu, Shangcheng, Li, Zhiqiang, Chen, Weixian. 2023. Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma. In PloS one, 18, e0286017. doi:10.1371/journal.pone.0286017. https://pubmed.ncbi.nlm.nih.gov/37228062/
6. Pan, Wen, Lin, Zhijie, Chen, Shiwen, Chen, Keyu, Zhang, Mingjie. 2025. SAMD12 as a Master Regulator of MAP4Ks by Decoupling Kinases From the CNKSR2 Scaffold. In Journal of molecular biology, 437, 169034. doi:10.1016/j.jmb.2025.169034. https://pubmed.ncbi.nlm.nih.gov/40010432/
7. Ishiura, Hiroyuki, Doi, Koichiro, Mitsui, Jun, Morishita, Shinichi, Tsuji, Shoji. 2018. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. In Nature genetics, 50, 581-590. doi:10.1038/s41588-018-0067-2. https://pubmed.ncbi.nlm.nih.gov/29507423/
8. Cen, Zhidong, Chen, You, Yang, Dehao, Zhang, Baorong, Luo, Wei. 2019. Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy. In Movement disorders : official journal of the Movement Disorder Society, 34, 1571-1576. doi:10.1002/mds.27832. https://pubmed.ncbi.nlm.nih.gov/31483537/