Tohoku University Tohoku Medical Megabank Organization (Jun Takayama)
2022.08.12

1.   Katata Yu, Uneoka Saki, Saijyo Naoya, et al. The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant. American Journal of Medical Genetics Part A. 2022; 188 (4): 1293-1298. doi:10.1002/ajmg.a.62629  
2.   Shibuya Moriei, Yaoita Hisao, Kodama Kaori, et al. A patient with early-onset SMAX3 and a novel variant of ATP7A. Brain and Development. 2022; 44 (1): 63-67. doi:10.1016/j.braindev.2021.08.004  
3.   Narishige Yuta, Yaoita Hisao, Shibuya Moriei, et al. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. The Tohoku Journal of Experimental Medicine. 2022; 256 (4): 2022.J010. doi:10.1620/tjem.2022.J010  
4.   Takayama Jun, Tadaka Shu, Yano Kenji, et al. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference. Nature Communications. 2021; 12 (1): 226. doi:10.1038/s41467-020-20146-8  
5.   Tadaka Shu, Hishinuma Eiji, Komaki Shohei, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Research. 2021; 49 (D1): D536-D544. doi:10.1093/nar/gkaa1034