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Key publications


  1. Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
    Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons M T., Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle A B., Kubo M; JAMA Oncol, 2022
    DOI: 10.1001/jamaoncol.2022.0476   日本語解説: 理研プレスリリース
  2. Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia
    Hashimoto M, Saito Y, Nakagawa R, Ogahara I, Takagi S, Takata S, Amitani H, Endo M, Yuki H, Ramilowski J A., Severin J, Manabe R, Watanabe T, Ozaki K, Kaneko A, Kajita H, Fujiki S, Sato K, Honma T, Uchida N, Fukami T, Okazaki Y, Ohara O, Shultz L D., Yamada M, Taniguchi S, Vyas P, De Hoon M, Momozawa Y, Ishikawa F; Nat Cancer 2:340–356, 2021
    DOI: 10.1038/s43018-021-00177-w   日本語解説: 理研プレスリリース
  3. Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
    Saiki R, Momozawa Y, Nannya Y, Nakagawa M M., Ochi Y, Yoshizato T, Terao C, Kuroda Y, Shiraishi Y, Chiba K, Tanaka H, Niida A, Imoto S, Matsuda K, Morisaki T, Murakami Y, Kamatani Y, Matsuda S, Kubo M, Miyano S, Makishima H, Ogawa S; Nat Med 27:1239–1249, 2021
    DOI: 10.1038/s41591-021-01411-9   日本語解説: 理研プレスリリース
  4. Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
    Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle A B., Momozawa Y; EBioMedicine 60:103033, 2020
    DOI: 10.1016/j.ebiom.2020.103033   日本語解説: 理研プレスリリース
  5. Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling.
    Motegi T, Kochi Y, Matsuda K, Kubo M, Yamamoto K, Momozawa Y; Ann Rheum Dis 78:1062-1069, 2019
    DOI: 10.1136/annrheumdis-2019-215062   日本語解説: 理研プレスリリース
  6. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
    Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle A B., Kubo M; Nat Commun 9:4083, 2018
    DOI: 10.1038/s41467-018-06581-8   日本語解説: 理研プレスリリース
  7. Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
    Momozawa Y, Akiyama M, Kamatani Y, Arakawa S, Yasuda M, Yoshida S, Oshima Y, Mori R, Tanaka K, Mori K, Inoue S, Terasaki H, Yasuma T, Honda S, Miki A, Inoue M, Fujisawa K, Takahashi K, Yasukawa T, Yanagi Y, Kadonosono K, Sonoda K, Ishibashi T, Takahashi A, Kubo M; Hum Mol Genet 25:5027-5034, 2016
    DOI: 10.1093/hmg/ddw335
  8. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
    Arakawa S, Takahashi A, Ashikawa K, Hosono N, Aoi T, Yasuda M, Oshima Y, Yoshida S, Enaida H, Tsuchihashi T, Mori K, Honda S, Negi A, Arakawa A, Kadonosono K, Kiyohara Y, Kamatani N, Nakamura Y, Ishibashi T, Kubo M; Nat Genet 43:1001-4, 2011
    DOI: 10.1038/ng.938
  9. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction.
    Kubo M, Hata J, Ninomiya T, Matsuda K, Yonemoto K, Nakano T, Matsushita T, Yamazaki K, Ohnishi Y, Saito S, Kitazono T, Ibayashi S, Sueishi K, Iida M, Nakamura Y, Kiyohara Y; Nat Genet 39:212-7, 2007
    DOI: 10.1038/ng1945
  10. A haplotype map of the human genome.
    The International HapMap Consortium; Nature 437:1299-320, 2005
    DOI: 10.1038/nature04226

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