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Page 1
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y, Yasuda J, Tanabe O, Suzuki Y, Kawame H, Fuse N, Nagasaki M, Kawai Y, Kojima K, Katsuoka F, Saito S, Danjoh I, Motoike IN, Yamashita R, Koshiba S, Saigusa D, Tamiya G, Kure S, Yaegashi N, Kawaguchi Y, Nagami F, Kuriyama S, Sugawara J, Minegishi N, Hozawa A, Ogishima S, Kiyomoto H, Takai-Igarashi T; ToMMo Study Group; Kinoshita K, Yamamoto M. Yamaguchi-Kabata Y, et al. Among authors: kure s. J Hum Genet. 2018 Feb;63(2):213-230. doi: 10.1038/s10038-017-0347-1. Epub 2017 Dec 1. J Hum Genet. 2018. PMID: 29192238 Clinical Trial.
Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project.
Koshiba S, Motoike I, Saigusa D, Inoue J, Shirota M, Katoh Y, Katsuoka F, Danjoh I, Hozawa A, Kuriyama S, Minegishi N, Nagasaki M, Takai-Igarashi T, Ogishima S, Fuse N, Kure S, Tamiya G, Tanabe O, Yasuda J, Kinoshita K, Yamamoto M. Koshiba S, et al. Among authors: kure s. Genes Cells. 2018 Jun;23(6):406-417. doi: 10.1111/gtc.12588. Epub 2018 Apr 27. Genes Cells. 2018. PMID: 29701317 Free article. Review.
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F; Tohoku Medical Megabank Project Study Group; Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M. Yasuda J, et al. Among authors: kure s. J Biochem. 2019 Feb 1;165(2):139-158. doi: 10.1093/jb/mvy096. J Biochem. 2019. PMID: 30452759
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.
Yamaguchi-Kabata Y, Yasuda J, Uruno A, Shimokawa K, Koshiba S, Suzuki Y, Fuse N, Kawame H, Tadaka S, Nagasaki M, Kojima K, Katsuoka F, Kumada K, Tanabe O, Tamiya G, Yaegashi N, Kinoshita K, Yamamoto M, Kure S; Tohoku Medical Megabank Project Study Group. Yamaguchi-Kabata Y, et al. Among authors: kure s. Hum Genet. 2019 Apr;138(4):389-409. doi: 10.1007/s00439-019-01998-7. Epub 2019 Mar 18. Hum Genet. 2019. PMID: 30887117
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
Takayama J, Tadaka S, Yano K, Katsuoka F, Gocho C, Funayama T, Makino S, Okamura Y, Kikuchi A, Sugimoto S, Kawashima J, Otsuki A, Sakurai-Yageta M, Yasuda J, Kure S, Kinoshita K, Yamamoto M, Tamiya G. Takayama J, et al. Among authors: kure s. Nat Commun. 2021 Jan 11;12(1):226. doi: 10.1038/s41467-020-20146-8. Nat Commun. 2021. PMID: 33431880 Free PMC article.
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S, Yamaguchi-Kabata Y, Shiga N, Tachibana M, Yasuda J, Tadaka S, Tamiya G, Fuse N, Kinoshita K, Kure S, Murotsuki J, Yamamoto M, Yaegashi N, Sugawara J. Nagaoka S, et al. Among authors: kure s. Hum Genome Var. 2021 Jan 15;8(1):2. doi: 10.1038/s41439-020-00133-7. Hum Genome Var. 2021. PMID: 33452237 Free PMC article.
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
Kawame H, Fukushima A, Fuse N, Nagami F, Suzuki Y, Sakurai-Yageta M, Yasuda J, Yamaguchi-Kabata Y, Kinoshita K, Ogishima S, Takai T, Kuriyama S, Hozawa A, Nakaya N, Nakamura T, Minegishi N, Sugawara J, Suzuki K, Tomita H, Uruno A, Kobayashi T, Aizawa Y, Tokutomi T, Yamamoto K, Ohneda K, Kure S, Aoki Y, Katagiri H, Ishigaki Y, Sawada S, Sasaki M, Yamamoto M. Kawame H, et al. Among authors: kure s. J Hum Genet. 2022 Jan;67(1):9-17. doi: 10.1038/s10038-021-00952-8. Epub 2021 Jul 8. J Hum Genet. 2022. PMID: 34234266
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.
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, Sugawara J. Shiga N, et al. Among authors: kure s. Hum Genome Var. 2022 Sep 28;9(1):34. doi: 10.1038/s41439-022-00213-w. Hum Genome Var. 2022. PMID: 36171209 Free PMC article.
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals.
Nagasaki M, Yasuda J, Katsuoka F, Nariai N, Kojima K, Kawai Y, Yamaguchi-Kabata Y, Yokozawa J, Danjoh I, Saito S, Sato Y, Mimori T, Tsuda K, Saito R, Pan X, Nishikawa S, Ito S, Kuroki Y, Tanabe O, Fuse N, Kuriyama S, Kiyomoto H, Hozawa A, Minegishi N, Douglas Engel J, Kinoshita K, Kure S, Yaegashi N; ToMMo Japanese Reference Panel Project; Yamamoto M. Nagasaki M, et al. Among authors: kure s. Nat Commun. 2015 Aug 21;6:8018. doi: 10.1038/ncomms9018. Nat Commun. 2015. PMID: 26292667 Free PMC article.
473 results