Tohoku University Tohoku Medical Megabank Organization (Satoshi Makino)
2022.08.12

1.   Kanno Miyako, Suzuki Mitsuyoshi, Tanikawa Ken, et al. Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct. Journal of Human Genetics. 2022; 67 (7): 393-397. doi:10.1038/s10038-022-01017-0  
2.   Ogishima Soichi, Nagaie Satoshi, Mizuno Satoshi, et al. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. Human Genome Variation. 2021; 8 (1): 44. doi:10.1038/s41439-021-00175-5  
3.   Mitsui Tetsuo, Makino Satoshi, Tamiya Gen, et al. ALOX12 mutation in a family with dominantly inherited bleeding diathesis. Journal of Human Genetics. 2021; 66 (8): 753-759. doi:10.1038/s10038-020-00887-6  
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.   Sakurai-Yageta Mika, Kumada Kazuki, Gocho Chinatsu, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021; 170 (3): 399-410. doi:10.1093/jb/mvab060  
6.   Okuda Hiroshi, Okamoto Koji, Abe Michiaki, et al. Genome-wide association study identifies new loci for albuminuria in the Japanese population. Clinical and Experimental Nephrology. 2020; 24 (8): 1-9. doi:10.1007/s10157-020-01884-x  
7.   Narita Akira, Nagai Masato, Mizuno Satoshi, et al. Clustering by phenotype and genome-wide association study in autism. Translational Psychiatry. 2020; 10 (1): 290. doi:10.1038/s41398-020-00951-x  
8.   Tadaka Shu, Katsuoka Fumiki, Ueki Masao, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. Human Genome Variation. 2019; 6 (1): 28. doi:10.1038/s41439-019-0059-5  
9.   Sakurai Rieko, Ueki Masao, Makino Satoshi, et al. Outlier detection for questionnaire data in biobanks. International Journal of Epidemiology. 2019; 48 (4): 1305-1315. doi:10.1093/ije/dyz012  
10.   Yasuda Jun, Kinoshita Kengo, Katsuoka Fumiki, et al. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. The Journal of Biochemistry. 2019; 165 (2): 139-158. doi:10.1093/jb/mvy096  
11.   Hiyama Gen, Mizushima Shusei, Matsuzaki Mei, et al. Female Japanese quail visually differentiate testosterone-dependent male attractiveness for mating preferences. Scientific Reports. 2018; 8 (1): 10012. doi:10.1038/s41598-018-28368-z  
12.   Ogino Daisuke, Hashimoto Taeko, Hattori Motoshi, et al. Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis. Journal of Human Genetics. 2016; 61 (2): 137-141. doi:10.1038/jhg.2015.122  
13.   Okamura Ken, Oiso Naoki, Tamiya Gen, et al. Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene. The Journal of Dermatology. 2015; 42 (12): 1211-1212. doi:10.1111/1346-8138.13095