ジャーナル論文 / Journal
  1. 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).
  2. 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).
  3. 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).
  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., 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).
  5. 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).
  6. 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).
  7. 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).
  8. 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).
  9. 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).
  10. 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).
  11. 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).
  12. 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).
  13. 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).
  14. 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).
  15. 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).
  16. 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).
  17. Ueki, M., and Tamiya, G., "Smooth-threshold multivariate genetic prediction incorporating gene-environment interactions", G3-genes Genomes Genetics 11(12), (2021).
  18. 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).
  19. 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).
  20. 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).
  21. 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).