Tohoku University Tohoku Medical Megabank Organization (Tomoko Kobayashi)
2022.05.17

1.   Ohneda Kinuko, Hiratsuka Masahiro, Kawame Hiroshi, et al. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. JMA Journal. 2022; : . https://www.jmaj.jp/detail.php?id=10.31662%2Fjmaj.2021-0156  
2.   Sugawara Junichi, Ishikuro Mami, Obara Taku, et al. Maternal Baseline Characteristics and Perinatal Outcomes: The Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Journal of Epidemiology. 2022; 32 (2): JE20200338. doi:10.2188/jea.JE20200338  
3.   Kawame Hiroshi, Fukushima Akimune, Fuse Nobuo, et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. Journal of Human Genetics. 2022; 67 (1): 9-17. doi:10.1038/s10038-021-00952-8  
4.   Fuse Nobuo, Sakurai Miyuki, Motoike Ikuko N., et al. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan. Ophthalmology Science. 2022; 2 (1): 100113. doi:10.1016/j.xops.2022.100113  
5.   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  
6.   Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study profile of the tohoku medical megabank community-based cohort study. Journal of Epidemiology. 2021; 31 (1): 65-76. doi:10.2188/jea.JE20190271  
7.   Minatogawa Mari, Unzaki Ai, Morisaki Hiroko, et al. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14 ). Journal of Medical Genetics. 2021; : jmedgenet-2020-107623. doi:10.1136/jmedgenet-2020-107623  
8.   Trivisano Marina, Ferretti Alessandro, Bebin Elizabeth, et al. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. Epilepsia. 2020; 61 (7): e71-e78. doi:10.1111/epi.16582  
9.   Kuriyama Shinichi, Metoki Hirohito, Kikuya Masahiro, et al. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): rationale, progress and perspective. International Journal of Epidemiology. 2020; 49 (1): 18-19m. doi:10.1093/ije/dyz169  
10.   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  
11.   Sakurai-Yageta Mika, Kawame Hiroshi, Kuriyama Shinichi, et al. A training and education program for genome medical research coordinators in the genome cohort study of the Tohoku Medical Megabank Organization. BMC Medical Education. 2019; 19 (1): 297. doi:10.1186/s12909-019-1725-5  
12.   Obara Taku, Ishikuro Mami, Tamiya Gen, et al. Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods. Scientific Reports. 2018; 8 (1): 14840. doi:10.1038/s41598-018-33110-w  
13.   相澤 弥生, 小林 朋子, 川目 裕. 網羅的ゲノム解析における偶発的所見を含む遺伝情報の結果の返却に関する我が国の現状と課題の検討 - 米国臨床遺伝・ゲノム学会 (ACMG) の偶発的所見取り扱いに関する推奨からの考察 -. 日本遺伝カウンセリング学会誌. 2016; 37(3) : 105 - 126. https://www.google.co.jp/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&uact=8&ved=0ahUKEwiFlJC5zsnWAhVHm5QKHRZ8ASQQFggnMAA&url=https%3A%2F%2Fmol.medicalonline.jp%2Farchive%2Fselect%3Fjo%3Ddg8genco&usg=AFQjCNH2UmhYVh7WSBNqQlB4q9hwJq4L3A  
14.   Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human Genetics. 2015; 134 (6): 649-658. doi:10.1007/s00439-015-1553-6  
15.   小林 朋子, 川目 裕. 【こどもの病気 遺伝について聞かれたら】 頭蓋骨縫合早期癒合症候群. 診断と治療社. 2015; 4 : 174-176. http://www.shindan.co.jp/books/index.php?menu=10&cd=205900&kbn=1  
16.   小林 朋子, 川目 裕. Roberts症候群 / SCアザラシ肢症候群. 別冊 新領域別症候群シリーズ 神経症候群(第2版)IV. 2014; 29 : 658-660. http://www.nippon-rinsho.co.jp/backnum/s_mokuji/7209sinkei4.html