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Page 1
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
Tokunaga H, Iida K, Hozawa A, Ogishima S, Watanabe Y, Shigeta S, Shimada M, Yamaguchi-Kabata Y, Tadaka S, Katsuoka F, Ito S, Kumada K, Hamanaka Y, Fuse N, Kinoshita K, Yamamoto M, Yaegashi N, Yasuda J. Tokunaga H, et al. Among authors: ogishima s. PLoS One. 2021 Jan 11;16(1):e0236907. doi: 10.1371/journal.pone.0236907. eCollection 2021. PLoS One. 2021. PMID: 33428613 Free PMC article.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Ogishi… See abstract for full author list ➔ Gargano MA, et al. Among authors: ogishima s. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 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. Nat Commun. 2015 Aug 21;6:8018. doi: 10.1038/ncomms9018. Nat Commun. 2015. PMID: 26292667 Free PMC article.
The Tohoku Medical Megabank Project: Design and Mission.
Kuriyama S, Yaegashi N, Nagami F, Arai T, Kawaguchi Y, Osumi N, Sakaida M, Suzuki Y, Nakayama K, Hashizume H, Tamiya G, Kawame H, Suzuki K, Hozawa A, Nakaya N, Kikuya M, Metoki H, Tsuji I, Fuse N, Kiyomoto H, Sugawara J, Tsuboi A, Egawa S, Ito K, Chida K, Ishii T, Tomita H, Taki Y, Minegishi N, Ishii N, Yasuda J, Igarashi K, Shimizu R, Nagasaki M, Koshiba S, Kinoshita K, Ogishima S, Takai-Igarashi T, Tominaga T, Tanabe O, Ohuchi N, Shimosegawa T, Kure S, Tanaka H, Ito S, Hitomi J, Tanno K, Nakamura M, Ogasawara K, Kobayashi S, Sakata K, Satoh M, Shimizu A, Sasaki M, Endo R, Sobue K, Tohoku Medical Megabank Project Study Group T, Yamamoto M. Kuriyama S, et al. Among authors: ogishima s. J Epidemiol. 2016 Sep 5;26(9):493-511. doi: 10.2188/jea.JE20150268. Epub 2016 Jul 2. J Epidemiol. 2016. PMID: 27374138 Free PMC article.
The structural origin of metabolic quantitative diversity.
Koshiba S, Motoike I, Kojima K, Hasegawa T, Shirota M, Saito T, Saigusa D, Danjoh I, Katsuoka F, Ogishima S, Kawai Y, Yamaguchi-Kabata Y, Sakurai M, Hirano S, Nakata J, Motohashi H, Hozawa A, Kuriyama S, Minegishi N, Nagasaki M, Takai-Igarashi T, Fuse N, Kiyomoto H, Sugawara J, Suzuki Y, Kure S, Yaegashi N, Tanabe O, Kinoshita K, Yasuda J, Yamamoto M. Koshiba S, et al. Among authors: ogishima s. Sci Rep. 2016 Aug 16;6:31463. doi: 10.1038/srep31463. Sci Rep. 2016. PMID: 27528366 Free PMC article.
Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design.
Takai-Igarashi T, Kinoshita K, Nagasaki M, Ogishima S, Nakamura N, Nagase S, Nagaie S, Saito T, Nagami F, Minegishi N, Suzuki Y, Suzuki K, Hashizume H, Kuriyama S, Hozawa A, Yaegashi N, Kure S, Tamiya G, Kawaguchi Y, Tanaka H, Yamamoto M. Takai-Igarashi T, et al. Among authors: ogishima s. BMC Med Inform Decis Mak. 2017 Jul 6;17(1):100. doi: 10.1186/s12911-017-0494-5. BMC Med Inform Decis Mak. 2017. PMID: 28683736 Free PMC article.
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: ogishima 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.
129 results