ジャーナル論文 / Journal
  1. Minn, A., Matsuzaki, M., Narita, A., Funayama, T., Kotsar, Y., Makino, S., Takayama, J., Tohoku Medical Megabank Project Study Group, Kuriyama, S., and Tamiya, G., "Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank", J. Hum. Genet., (2025).
  2. Takayama, J., Makino, S., Funayama, T., Ueki, M., Narita, A., Murakami, K., Orui, M., Ishikuro, M., Obara, T., Group, t. T., Kuriyama, S., Yamamoto, M., and Tamiya, G., "A fine‐scale genetic map of the Japanese population", Clin. Genet. 106(3), 284–292, (2024).
  3. Takase, M., Nakaya, N., Nakamura, T., Kogure, M., Hatanaka, R., Nakaya, K., Chiba, I., Tokioka, S., Kanno, I., Nochioka, K., Tsuchiya, N., Hirata, T., Narita, A., Obara, T., Ishikuro, M., Ohseto, H., Uruno, A., Kobayashi, T., Kodama, E. N., Hamanaka, Y., Orui, M., Ogishima, S., Nagaie, S., Fuse, N., Sugawara, J., Kuriyama, S., Matsuda, B. J., Izumi, Y., Kinoshita, K., Tamiya, G., Hozawa, A., Yamamoto, M., and investigators, T., "Genetic Risk, Lifestyle Adherence, and Risk of Developing Hyperuricaemia in a Japanese Population", Rheumatology, keae492, (2024).
  4. Takase, M., Nakaya, N., Nakamura, T., Kogure, M., Hatanaka, R., Nakaya, K., Chiba, I., Kanno, I., Nochioka, K., Tsuchiya, N., Hirata, T., Narita, A., Obara, T., Ishikuro, M., Uruno, A., Kobayashi, T., Kodama, E. N., Hamanaka, Y., Orui, M., Ogishima, S., Nagaie, S., Fuse, N., Sugawara, J., Kuriyama, S., Project, B. J., Matsuda, K., Izumi, Y., Kinoshita, K., Tamiya, G., Hozawa, A., Yamamoto, M., and investigators, T., "Genetic Risk, Healthy Lifestyle Adherence, and Risk of Developing Diabetes in the Japanese Population", Journal of Atherosclerosis and Thrombosis 31(12), 1717–1732, (2024).
  5. Takase, M., Hirata, T., Nakaya, N., Nakamura, T., Kogure, M., Hatanaka, R., Nakaya, K., Chiba, I., Kanno, I., Nochioka, K., Tsuchiya, N., Narita, A., Metoki, H., Satoh, M., Obara, T., Ishikuro, M., Ohseto, H., Uruno, A., Kobayashi, T., Kodama, E. N., Hamanaka, Y., Orui, M., Ogishima, S., Nagaie, S., Fuse, N., Sugawara, J., Kuriyama, S., Tamiya, G., Hozawa, A., and Yamamoto, M., "Associations of combined genetic and lifestyle risks with hypertension and home hypertension", Hypertens. Res. 47(8), 2064–2074, (2024).
  6. Takahashi, I., Ohseto, H., Ueno, F., Oonuma, T., Narita, A., Obara, T., Ishikuro, M., Murakami, K., Noda, A., Hozawa, A., Sugawara, J., Tamiya, G., and Kuriyama, S., "Genome-wide association study based on clustering by obesity-related variables uncovers a genetic architecture of obesity in the Japanese and the UK populations", Heliyon 10(16), e36023, (2024).
  7. Suzuki, T., Ninomiya, K., Funayama, T., Okamura, Y., Tadaka, S., Group, t. T., Kinoshita, K., Yamamoto, M., Kure, S., Kikuchi, A., Tamiya, G., and Takayama, J., "Next-generation sequencing analysis with a population-specific human reference genome", Genes Genet. Syst. 99(0), 24–00112, (2024).
  8. Sato, D., Kirikae, H., Nakano, T., Katayama, S., Yaoita, H., Takayama, J., Tamiya, G., Kure, S., Kikuchi, A., and Sasahara, Y., "Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia", Pediatr. Hematol. Oncol. 41(8), 541–556, (2024).
  9. Saijo, N., Yaoita, H., Takayama, J., Ota, C., Kawai, E., Kimura, M., Ozawa, A., Tamiya, G., Kure, S., and Kikuchi, A., "A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus", American Journal of Medical Genetics Part A, e63906, (2024).
  10. Ojima, T., Namba, S., Suzuki, K., Yamamoto, K., Sonehara, K., Narita, A., Kamatani, Y., Tamiya, G., Yamamoto, M., Yamauchi, T., Kadowaki, T., and Okada, Y., "Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses", Nat. Genet. 56(6), 1100–1109, (2024).
  11. Narumi, S., Nagasaki, K., Kiriya, M., Uehara, E., Akiba, K., Tanase-Nakao, K., Shimura, K., Abe, K., Sugisawa, C., Ishii, T., Miyako, K., Hasegawa, Y., Maruo, Y., Muroya, K., Watanabe, N., Nishihara, E., Ito, Y., Kogai, T., Kameyama, K., Nakabayashi, K., Hata, K., Fukami, M., Shima, H., Kikuchi, A., Takayama, J., Tamiya, G., and Hasegawa, T., "Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities", Nat. Genet. 56(5), 869–876, (2024).
  12. Namba, S., Akiyama, M., Hamanoue, H., Kato, K., Kawashima, M., Kushima, I., Matsuda, K., Nakatochi, M., Ogishima, S., Sonehara, K., Suzuki, K., Takata, A., Tamiya, G., Tanikawa, C., Yamamoto, K., Yamamoto, N., Ozaki, N., and Okada, Y., "Inconsistent embryo selection across polygenic score methods", Nature Human Behaviour 8(12), 2264–2267, (2024).
  13. Kawashima, A., Kodama, K., Okubo, Y., Endo, W., Inui, T., Ikeda, M., Katata, Y., Togashi, N., Ohba, C., Imagawa, E., Iwama, K., Mizuguchi, T., Kitami, M., Aihara, Y., Takayama, J., Tamiya, G., Kikuchi, A., Kure, S., Saitsu, H., Matsumoto, N., and Haginoya, K., "Long‐term clinical observation of patients with heterozygous KIF1A variants", American Journal of Medical Genetics Part A 194(10), e63656, (2024).
  14. Iwafuchi, S., Uchida, N., Saijo, N., Sogi, C., Kamimura, M., Takayama, J., Tamiya, G., Kikuchi, A., and Kanno, J., "Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report", Clinical Pediatric Endocrinology 34(1), 60–65, (2024).
  15. Inotani, T., Horaguchi, A., Morishita, Y., Yoshida, A., Otomo, M., Suzuki, M., Inui, T., Okubo, Y., Komatsu, S., Mizuno, C., Takahashi, Y., Ochiai, T., Kinjo, T., Asato, T., Takayama, J., Tamiya, G., Saijo, N., Kikuchi, A., and Haginoya, K., "Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report", The Tohoku Journal of Experimental Medicine, 2024.j004, (2024).
  16. Harada, S., Iida, M., Miyagawa, N., Hirata, A., Kuwabara, K., Matsumoto, M., Okamura, T., Edagawa, S., Kawada, Y., Miyake, A., Toki, R., Akiyama, M., Kawai, A., Sugiyama, D., Sato, Y., Takemura, R., Fukai, K., Ishibashi, Y., Kato, S., Kurihara, A., Sata, M., Shibuki, T., Takeuchi, A., Kohsaka, S., Sawano, M., Shoji, S., Izawa, Y., Katsumata, M., Oki, K., Takahashi, S., Takizawa, T., Maruya, H., Nishiwaki, Y., Kawasaki, R., Hirayama, A., Ishikawa, T., Saito, R., Sato, A., Soga, T., Sugimoto, M., Tomita, M., Komaki, S., Ohmomo, H., Ono, K., Otsuka-Yamasaki, Y., Shimizu, A., Sutoh, Y., Hozawa, A., Kinoshita, K., Koshiba, S., Kumada, K., Ogishima, S., Sakurai-Yageta, M., Tamiya, G., and Takebayashi, T., "Study Profile of the Tsuruoka Metabolomics Cohort Study (TMCS)", J. Epidemiol. 34(8), 393–401, (2024).
  17. Uneoka, S., Kobayashi, T., Numata-Uematsu, Y., Oikawa, Y., Katata, Y., Okubo, Y., Abe, Y., Kikuchi, A., Takayama, J., Tamiya, G., Kure, S., Saito, K., and Uematsu, M., "A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor", Pediatr. Neurol. 146, 16–20, (2023).
  18. Takayuki, ., Hikaru, M., Yusuke, K., Takashi, I., Kouji, B., Wataru, Y., and Gen, T., "Evaluation of AI-Assisted Colposcopy for Detecting High-Risk Subtypes of Human Papillomavirus in CIN2", Eur. J. Gynaecol. Oncol., (2023).
  19. Takase, M., Nakaya, N., Nakamura, T., Kogure, M., Hatanaka, R., Nakaya, K., Chiba, I., Kanno, I., Nochioka, K., Tsuchiya, N., Hirata, T., Narita, A., Obara, T., Ishikuro, M., Uruno, A., Kobayashi, T., N Kodama, E., Hamanaka, Y., Orui, M., Ogishima, S., Nagaie, S., Fuse, N., Sugawara, J., Kuriyama, S., Tsuji, I., Tamiya, G., Hozawa, A., and Yamamoto, M., "Influence of Diabetes Family History on the Associations of Combined Genetic and Lifestyle Risks with Diabetes in the Tohoku Medical Megabank Community-Based Cohort Study", Journal of Atherosclerosis and Thrombosis 30(12), 1950–1965, (2023).
  20. Tadaka, S., Kawashima, J., Hishinuma, E., Saito, S., Okamura, Y., Otsuki, A., Kojima, K., Komaki, S., Aoki, Y., Kanno, T., Saigusa, D., Inoue, J., Shirota, M., Takayama, J., Katsuoka, F., Shimizu, A., Tamiya, G., Shimizu, R., Hiratsuka, M., Motoike, I. N., Koshiba, S., Sasaki, M., Yamamoto, M., and Kinoshita, K., "jMorp: Japanese Multi-Omics Reference Panel update report 2023", Nucleic Acids Res. 52(D1), d622–d632, (2023).
  21. Nishioka, M., Takayama, J., Sakai, N., Kazuno, A., Ishiwata, M., Ueda, J., Hayama, T., Fujii, K., Someya, T., Kuriyama, S., Tamiya, G., Takata, A., and Kato, T., "Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder", Mol. Psychiatry, 1–13, (2023).
  22. Sugawara, Y., Hirakawa, Y., Nagasu, H., Narita, A., Katayama, A., Wada, J., Shimizu, M., Wada, T., Kitamura, H., Nakano, T., Yokoi, H., Yanagita, M., Goto, S., Narita, I., Koshiba, S., Tamiya, G., Nangaku, M., Yamamoto, M., and Kashihara, N., "Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank", J. Hum. Genet. 68(2), 55–64, (2022).
  23. Sugawara, J., Ishikuro, M., Obara, T., Onuma, T., Murakami, K., Kikuya, M., Ueno, F., Noda, A., Mizuno, S., Kobayashi, T., Hamanaka, Y., Suzuki, K., Kodama, E., Tsuchiya, N., Uruno, A., Suzuki, Y., Tanabe, O., Kiyomoto, H., Tsuboi, A., Shimizu, A., Koshiba, S., Minegishi, N., Ogishima, S., Tamiya, G., Metoki, H., Hozawa, A., Fuse, N., Kinoshita, K., Kure, S., Yaegashi, N., Kuriyama, S., and Yamamoto, M., "Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study", J. Epidemiol. 32(2), 69–79, (2022).
  24. Shiga, N., Yamaguchi-Kabata, Y., Igeta, S., Yasuda, J., Tadaka, S., Minato, T., Watanabe, Z., Kanno, J., Tamiya, G., Fuse, N., Kinoshita, K., Kure, S., Kondo, A., Tachibana, M., Yamamoto, M., Yaegashi, N., and Sugawara, J., "Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals", Hum. Genome Var. 9(1), 34, (2022).
  25. Shibuya, M., Yaoita, H., Kodama, K., Okubo, Y., Endo, W., Inui, T., Togashi, N., Takayama, J., Tamiya, G., Kikuchi, A., Kure, S., and Haginoya, K., "A patient with early-onset SMAX3 and a novel variant of ATP7A", Brain Dev. 44(1), 63–67, (2022).
  26. Saito-Hakoda, A., Kikuchi, A., Takahashi, T., Yokoyama, Y., Himori, N., Adachi, M., Ikeda, R., Nomura, Y., Takayama, J., Kawashima, J., Katsuoka, F., Fujishima, F., Yamaguchi, T., Ito, A., Hanita, T., Kanno, J., Aizawa, T., Nakazawa, T., Kawase, T., Tamiya, G., Yamamoto, M., Fujiwara, I., and Kure, S., "Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)", J. Bone Miner. Metab. 41(2), 193–202, (2022).
  27. Otsuki, A., Okamura, Y., Ishida, N., Tadaka, S., Takayama, J., Kumada, K., Kawashima, J., Taguchi, K., Minegishi, N., Kuriyama, S., Tamiya, G., Kinoshita, K., Katsuoka, F., and Yamamoto, M., "Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology", Commun. Biol. 5(1), 991, (2022).
  28. Narishige, Y., Yaoita, H., Shibuya, M., Ikeda, M., Kodama, K., Kawashima, A., Okubo, Y., Endo, W., Inui, T., Togashi, N., Tanaka, S., Kobayashi, Y., Onuma, A., Takayama, J., Tamiya, G., Kikuchi, A., Kure, S., and Haginoya, K., "Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2", Tohoku J. Exp. Med. 256(4), 321–326, (2022).
  29. Matsuoka, H., Takahashi, T., Sakurai, R., Akatsuka, J., Yusuke, K., Masaru, N., Takashi, I., Kouji, B., Matsuzaki, M., Takayama, J., Daisuke, A., Yamamoto, Y., and Tamiya, G., "Development of a prognostic prediction support system for cervical intraepithelial neoplasia using artificial intelligence-based diagnosis", J Gynecol Oncol, (2022).
  30. Katata, Y., Uneoka, S., Saijyo, N., Aihara, Y., Miyazoe, T., Koyamaishi, S., Oikawa, Y., Ito, Y., Abe, Y., Numata-Uematsu, Y., Takayama, J., Kikuchi, A., Tamiya, G., Uematsu, M., and Kure, S., "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 188(4), 1293–1298, (2022).
  31. Kanno, M., Suzuki, M., Tanikawa, K., Numakura, C., Matsuzawa, S., Niihori, T., Aoki, Y., Matsubara, Y., Makino, S., Tamiya, G., Nakano, S., Funayama, R., Shirota, M., Nakayama, K., Mitsui, T., and Hayasaka, K., "Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct", J. Hum. Genet., (2022).
  32. Ueki, M., and Tamiya, G., "Smooth-threshold multivariate genetic prediction incorporating gene-environment interactions", G3-genes Genomes Genetics 11(12), (2021).
  33. Uchida, Y., Higuchi, T., Shirota, M., Kagami, S., Saigusa, D., Koshiba, S., Yasuda, J., Tamiya, G., Kuriyama, S., Kinoshita, K., Yaegashi, N., Yamamoto, M., Terasaki, T., and Sugawara, J., "Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia", Biol. Pharm. Bull. 44(6), 804–815, (2021).
  34. Sakaue, S., Kanai, M., Tanigawa, Y., Karjalainen, J., Kurki, M., Koshiba, S., Narita, A., Konuma, T., Yamamoto, K., Akiyama, M., Ishigaki, K., Suzuki, A., Suzuki, K., Obara, W., Yamaji, K., Takahashi, K., Asai, S., Takahashi, Y., Suzuki, T., Shinozaki, N., Yamaguchi, H., Minami, S., Murayama, S., Yoshimori, K., Nagayama, S., Obata, D., Higashiyama, M., Masumoto, A., Koretsune, Y., Ito, K., Terao, C., Yamauchi, T., Komuro, I., Kadowaki, T., Tamiya, G., Yamamoto, M., Nakamura, Y., Kubo, M., Murakami, Y., Yamamoto, K., Kamatani, Y., Palotie, A., Rivas, M. A., Daly, M. J., Matsuda, K., and Okada, Y., "A cross-population atlas of genetic associations for 220 human phenotypes", Nat. Genet., (2021).
  35. Sakamoto, H., Kita, K., and Matsuzaki, M., "A Novel 2A-peptide-containing Plasmid to Generate Stable Perkinsus marinus Cells Expressing Organelle-targeted Genes", J. Eukaryot. Microbiol., (2021).
  36. Fukumoto, J., Sakura, T., Matsubara, R., Tahara, M., Matsuzaki, M., and Nagamune, K., "Rhoptry kinase protein 39 (ROP39) is a novel factor that recruits host mitochondria to the parasitophorous vacuole of Toxoplasma gondii", Biology Open 10(9), (2021).
エディトリアル / Editorial
  1. Shido, K., Kojima, K., Shirota, M., Yamasaki, K., Motoike, I. N., Hozawa, A., Ogishima, S., Minegishi, N., Tanno, K., Katsuoka, F., Tamiya, G., Aiba, S., Yamamoto, M., and Kinoshita, K., "GWAS Identified IL4R and the Major Histocompatibility Complex Region as the Associated Loci of Total Serum IgE Levels in 9,260 Japanese Individuals", J. Invest. Dermatol. 141(11), 2749–2752, (2021).