Tohoku University Tohoku Medical Megabank Organization (Hiroshi Kawame)
2025.05.01

1.   Shima Hirohito, Miura Akinobu, Kawashima Sayaka, et al. Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion. Clinical Pediatric Endocrinology. 2025; 34 (1): 2024-0024. doi:10.1297/cpe.2024-0024  
2.   Ohneda Kinuko, Suzuki Yoichi, Hamanaka Yohei, et al. Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan. Journal of Human Genetics. 2025; 70 (3): 147-157. doi:10.1038/s10038-024-01314-w  
3.   Hiromoto Kana, Yamada Takahiro, Tsuchiya Mio, et al. Difficulties in disclosing secondary findings by facilities performing comprehensive germline genetic testing for rare diseases in Japan. Congenital Anomalies. 2024; 64 (3): 116-124. doi:10.1111/cga.12562  
4.   Noda Aoi, Obara Taku, Matsuzaki Fumiko, et al. Risk of Major Congenital Malformations Associated with the Use of Japanese Traditional (Kampo) Medicine Containing Ephedra During the First Trimester of Pregnancy. Drugs - Real World Outcomes. 2024; 11 (2): 263-272. doi:10.1007/s40801-023-00411-0  
5.   Tokutomi Tomoharu, Yoshida Akiko, Fukushima Akimune, et al. The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia. Genes. 2024; 15 (3): 384. doi:10.3390/genes15030384  
6.   Ishikawa Tomofumi, Kawame Hiroshi, Mano Nariyasu, Obara Taku. Real‐world prevalence, time of diagnosis, and co‐occurrence patterns of birth defects in live‐born infants, 2014–2020: A health administrative database study in Japan. Birth Defects Research. 2023; 115 (18): 1723-1736. doi:10.1002/bdr2.2247  
7.   Ohneda Kinuko, Hamanaka Yohei, Kawame Hiroshi, et al. Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants. Breast Cancer. 2023; 30 (1): 110-120. doi:10.1007/s12282-022-01404-7  
8.   Hiromoto Kana, Yamada Takahiro, Tsuchiya Mio, et al. Challenges of secondary finding disclosure in genomic medicine in rare diseases: A nation-wide survey of Japanese facilities outsourcing comprehensive genetic testing. Journal of Human Genetics. 2023; 68 (1): 1-9. doi:10.1038/s10038-022-01084-3  
9.   Ishikawa Tomofumi, Nishigori Hidekazu, Akazawa Manabu, et al. Risk of major congenital malformations associated with first-trimester antihypertensives, including amlodipine and methyldopa: A large claims database study 2010–2019. Pregnancy Hypertension. 2023; 31 : 73-83. doi:10.1016/j.preghy.2023.01.001  
10.   Takeda Ryojun, Yamaguchi Tomomi, Hayashi Shujiro, et al. Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications. American Journal of Medical Genetics Part A. 2022; 188 (9): 2560-2575. doi:10.1002/ajmg.a.62887  
11.   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; 5 (2): . doi:10.31662/jmaj.2021-0156  
12.   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  
13.   Ishikawa Tomofumi, Obara Taku, Akazawa Manabu, et al. Risk of major congenital malformations associated with first‐trimester exposure to propulsives: A health administrative database study in Japan. Pharmacoepidemiology and Drug Safety. 2022; 31 (2): 196-205. doi:10.1002/pds.5370  
14.   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  
15.   Ishikawa Tomofumi, Oyanagi Gen, Obara Taku, et al. Validity of congenital malformation diagnoses in healthcare claims from a university hospital in Japan. Pharmacoepidemiology and Drug Safety. 2021; 30 (7): 975-978. doi:10.1002/pds.5244  
16.   Sakurai-Yageta Mika, Kumada Kazuki, Gocho Chinatsu, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021; 170 (3): 399-410. doi:10.1093/jb/mvab060  
17.   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  
18.   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  
19.   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  
20.   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  
21.   Nagasaki Masao, Kuroki Yoko, Shibata Tomoko F., et al. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Human Genome Variation. 2019; 6 (1): 27. doi:10.1038/s41439-019-0057-7  
22.   Fuse Nobuo, Sakurai-Yageta Mika, Katsuoka Fumiki, et al. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. JMA Journal. 2019; 2 (2): 113-122. doi:10.31662/jmaj.2019-0014  
23.   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  
24.   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  
25.   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  
26.   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): 209-222. doi:10.1007/s00439-015-1627-5  
27.   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  
28.   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  
29.   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  
30.   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): 922-930. doi:10.1007/s10897-015-9828-6  
31.   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 (1): 8018. doi:10.1038/ncomms9018  
32.   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  
33.   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