Tohoku University Tohoku Medical Megabank Organization (Yasunobu Okamura)
2025.05.01

1.   Nakatochi Masahiro, Kushima Itaru, Aleksic Branko, et al. Copy number variations in RNF216 and postsynaptic membrane–associated genes are associated with bipolar disorder: a case‐control study in the Japanese population. Psychiatry and Clinical Neurosciences. 2025; 79 (1): 12-20. doi:10.1111/pcn.13752  
2.   Suzuki Tomohisa, Ninomiya Kota, Funayama Takamitsu, et al. Next-generation sequencing analysis with a population-specific human reference genome. Genes & Genetic Systems. 2024; 99 : 24-00112. doi:10.1266/ggs.24-00112  
3.   Kojima Kaname, Tadaka Shu, Okamura Yasunobu, Kinoshita Kengo. Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes. Journal of Human Genetics. 2024; 69 (10): 511-518. doi:10.1038/s10038-024-01261-6  
4.   Itoh Taito, Omori Yuko, Seino Mitsuru, et al. Gene Rearrangement and Expression of PRKACA and PRKACB Govern Morphobiology of Pancreatobiliary Oncocytic Neoplasms. Modern Pathology. 2024; 37 (1): 100358. doi:10.1016/j.modpat.2023.100358  
5.   Tadaka Shu, Kawashima Junko, Hishinuma Eiji, et al. jMorp: Japanese Multi-Omics Reference Panel update report 2023. Nucleic Acids Research. 2024; 52 (D1): D622-D632. doi:10.1093/nar/gkad978  
6.   Ishikawa Tomohiko, Ogawa Takenori, Shiihara Masahiro, et al. Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials. iScience. 2023; 26 (5): 106695. doi:10.1016/j.isci.2023.106695  
7.   Otsuki Akihito, Okamura Yasunobu, Ishida Noriko, et al. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. Communications Biology. 2022; 5 (1): 991. doi:10.1038/s42003-022-03953-1  
8.   Yu Zhiqian, Matsukawa Naomi, Saigusa Daisuke, et al. Plasma metabolic disturbances during pregnancy and postpartum in women with depression. iScience. 2022; 25 (12): 105666. doi:10.1016/j.isci.2022.105666  
9.   Kushima Itaru, Aleksic Branko, Kimura Hiroki, et al. X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization. Psychiatry and Clinical Neurosciences. 2022; 76 (12): 667-673. doi:10.1111/pcn.13474  
10.   Tayama Hodaka, Karasawa Hideaki, Yamamura Akihiro, et al. The association between ERK inhibitor sensitivity and molecular characteristics in colorectal cancer. Biochemical and Biophysical Research Communications. 2021; 560 : 59-65. doi:10.1016/j.bbrc.2021.04.130  
11.   Shiihara Masahiro, Ishikawa Tomohiko, Saiki Yuriko, et al. Development of a system combining comprehensive genotyping and organoid cultures for identifying and testing genotype-oriented personalised medicine for pancreatobiliary cancers. European Journal of Cancer. 2021; 148 : 239-250. doi:10.1016/j.ejca.2021.01.047  
12.   Otsuki Akihito, Okamura Yasunobu, Aoki Yuichi, et al. Identification of Dominant Transcripts in Oxidative Stress Response by a Full-Length Transcriptome Analysis. Molecular and Cellular Biology. 2021; 41 (2): 1-18. doi:10.1128/MCB.00472-20  
13.   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  
14.   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  
15.   Mizuguchi Takeshi, Suzuki Takeshi, Abe Chihiro, et al. A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. Journal of Human Genetics. 2019; 64 (5): 359-368. doi:10.1038/s10038-019-0569-5