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jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population.
Tadaka S, Hishinuma E, Komaki S, Motoike IN, Kawashima J, Saigusa D, Inoue J, Takayama J, Okamura Y, Aoki Y, Shirota M, Otsuki A, Katsuoka F, Shimizu A, Tamiya G, Koshiba S, Sasaki M, Yamamoto M, Kinoshita K. Tadaka S, et al. Among authors: takayama j. Nucleic Acids Res. 2021 Jan 8;49(D1):D536-D544. doi: 10.1093/nar/gkaa1034. Nucleic Acids Res. 2021. PMID: 33179747 Free PMC article.
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. Nat Commun. 2021 Jan 11;12(1):226. doi: 10.1038/s41467-020-20146-8. Nat Commun. 2021. PMID: 33431880 Free PMC article.
A patient with early-onset SMAX3 and a novel variant of ATP7A.
Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Shibuya M, et al. Among authors: takayama j. Brain Dev. 2022 Jan;44(1):63-67. doi: 10.1016/j.braindev.2021.08.004. Epub 2021 Aug 26. Brain Dev. 2022. PMID: 34456088
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
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, Haginoya K. Narishige Y, et al. Among authors: takayama j. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010. Epub 2022 Mar 24. Tohoku J Exp Med. 2022. PMID: 35321980 Free article.
Development of a prognostic prediction support system for cervical intraepithelial neoplasia using artificial intelligence-based diagnosis.
Takahashi T, Matsuoka H, Sakurai R, Akatsuka J, Kobayashi Y, Nakamura M, Iwata T, Banno K, Matsuzaki M, Takayama J, Aoki D, Yamamoto Y, Tamiya G. Takahashi T, et al. Among authors: takayama j. J Gynecol Oncol. 2022 Sep;33(5):e57. doi: 10.3802/jgo.2022.33.e57. Epub 2022 May 16. J Gynecol Oncol. 2022. PMID: 35712970 Free PMC article.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B… See abstract for full author list ➔ Ramdas S, et al. Among authors: takayama j. Am J Hum Genet. 2022 Aug 4;109(8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012. Am J Hum Genet. 2022. PMID: 35931049 Free PMC article.
196 results