Tohoku University Tohoku Medical Megabank Organization (Hiroshi Kawame)
2019.09.20

1.   Iwasawa Shinya, Yanagi Kumiko, Kikuchi Atsuo, et al. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of neurology. 2019; 85 (6): 927-933. doi:10.1002/ana.25481  
2.   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  
3.   Yamaguchi-Kabata Yumi, Yasuda Jun, Uruno Akira, et al. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics. 2019; 138 (4): 389-409. doi:10.1007/s00439-019-01998-7  
4.   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. 2019; : . doi:10.1093/ije/dyz169  
5.   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  
6.   Yamamoto Kayono, Shimizu Atsushi, Aizawa Fumie, et al. A comparison of genome cohort participants’ genetic knowledge and preferences to receive genetic results before and after a genetics workshop. Journal of Human Genetics. 2018; 63 (11): 1139-1147. doi:10.1038/s10038-018-0494-z  
7.   Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, et al. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. Journal of Human Genetics. 2018; 63 (2): 213-230. doi:10.1038/s10038-017-0347-1  
8.   Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, et al. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics. 2016; 135 (2): 209-22. doi:10.1007/s00439-015-1627-5  
9.   Kuriyama Shinichi, Yaegashi Nobuo, Nagami Fuji, et al. The Tohoku Medical Megabank Project: Design and Mission. Journal of Epidemiology. 2016; 26 (9): 493-511. doi:10.2188/jea.JE20150268  
10.   相澤 弥生, 川目 裕. 遺伝カウンセラーにおける共感疲労、バーンアウトと共感満足 系統的レビュー. 日本遺伝カウンセリング学会誌. 2016; 37 : 21--30. http://search.jamas.or.jp/link/bc/20160721370002  
11.   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 : 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  
12.   Kaneko Mikiko, Ohashi Hirofumi, Takamura Tomoko, Kawame Hiroshi. Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan. Journal of genetic counseling. 2015; 24 (6): 922-30. doi:10.1007/s10897-015-9828-6  
13.   Nagasaki Masao, Yasuda Jun, Katsuoka Fumiki, et al. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nature communications. 2015; 6 : 8018. doi:10.1038/ncomms9018  
14.   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  
15.   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  
16.   小林 朋子, 川目 裕. Robinow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 : 661-662. http://www.nippon-rinsho.co.jp/backnum/s_mokuji/7209sinkei4.html