Research Summary

Selected Publications

• 1. Vo P, Imai-Leonard DM, Yang B, Briere A, Shao A, Casanova MI, Adams D, Amano T, Amarie O, Berberovic Z, Bower L, Braun R, Brown S, Burrill S, Cho SY, Clementson-Mobbs S, D'Souza A, Dickinson M, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Heaney J, Hérault Y, Angelis MH, Hsu CW, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Meziane H, Murray S, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Ryan J, Salazar J, Seavey Z, Seavitt JR, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Stewart M, Svenson K, Tamura M, Tolentino H, Udensi U, Wells S, White J, Willett A, Wotton J, Wurst W, Yoshiki A; International Mouse Phenotyping Consortium; Lanoue L, Lloyd KCK, Leonard BC, Roux MJ, McKerlie C, Moshiri A.
  "Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes."
  BMC Genomics. 2025 Jan 20;26(1):48.
• 2. Kurasawa S, Ganaha A, Ayabe S, Yoshiki A, Kawama F, Kitayama S, Tabuchi K, Yamashita K, Ueyama T.
  "Hearing loss occurs prior to thrombocytopenia in both mice and humans with DFNA1."
  FASEB J. 2025 Jan 31;39(2):e70309.
• 3. Mizuno-Iijima S, Kawamoto S, Asano M, Mashimo T, Wakana S, Nakamura K, Nishijima KI, Okamoto H, Saito K, Yoshina S, Miwa Y, Nakamura Y, Ohkuma M, Yoshiki A.
  "Mammalian genome research resources available from the National BioResource Project in Japan."
  Mamm Genome 35(4):497-523. (2024).
• 4. Teboul L, Amos-Landgraf J, Benavides FJ, Birling MC, Brown SDM, Bryda E, Bunton-Stasyshyn R, Chin HJ, Crispo M, Delerue F, Dobbie M, Franklin CL, Fuchtbauer EM, Gao X, Golzio C, Haffner R, Hérault Y, Hrabe de Angelis M, Lloyd KCK, Magnuson TR, Montoliu L, Murray SA, Nam KH, Nutter LMJ, Pailhoux E, Pardo Manuel de Villena F, Peterson K, Reinholdt L, Sedlacek R, Seong JK, Shiroishi T, Smith C, Takeo T, Tinsley L, Vilotte JL, Warming S, Wells S, Whitelaw CB, Yoshiki A; Asian Mouse Mutagenesis Resource Association; CELPHEDIA infrastructure; INFRAFRONTIER consortium; International Mammalian Genome Society; International Mouse Phenotyping Consortium; International Society for Transgenic Technologies; Mutant Mouse Resource and Research Centers; Phenomics Australia; RRRC- Rat Resource and Research Center; Pavlovic G.
  "Improving laboratory animal genetic reporting: LAG-R guidelines."
  Nat Commun 15(1):5574. (2024).
• 5. Saito A, Tahara R, Hirose M, Kadota M, Hasegawa A, Kondo S, Kato H, Amano T, Yoshiki A, Ogura A, Kiyosawa H.
  "Inter-subspecies mouse F1 hybrid embryonic stem cell lines newly established for studies of allelic imbalance in gene expression."
  Exp Anim 73(3):310-318. (2024).
• 6. Nakashiba T, Ogoh K, Iwano S, Sugiyama T, Mizuno-Iijima S, Nakashima K, Mizuno S, Sugiyama F, Yoshiki A, Miyawaki A, Abe K.
  "Development of two mouse strains conditionally expressing bright luciferases with distinct emission spectra as new tools for in vivo imaging."
  Lab Anim (NY), 52(10):247-257. (2023).
• 7. Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A.
  "Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences."
  Eur J Med Genet 66(8):104804. (2023).
• 8. Tamari T, Ikeda Y, Morimoto K, Kobayashi K, Mizuno-Iijima S, Ayabe S, Kuno A, Mizuno S, Yoshiki A.
  "A universal method for generating knockout mice in multiple genetic backgrounds using zygote electroporation."
  Biol Open 12(9): bio059970. (2023).
• 9. Kuno A, Ikeda Y, Ayabe S, Kato K, Sakamoto K, Suzuki SR, Morimoto K, Wakimoto A, Mikami N, Ishida M, Iki N, Hamada Y, Takemura M, Daitoku Y, Tanimoto Y, Dinh TTH, Murata K, Hamada M, Muratani M, Yoshiki A, Sugiyama F, Takahashi S, Mizuno S.
  "DAJIN enables multiplex genotyping to simultaneously validate intended and unintended target genome editing outcomes."
  PLoS Biol 20(1):e3001507. (2022).
• 10. Mizuno-Iijima S, Nakashiba T, Ayabe S, Nakata H, Ike F, Hiraiwa N, Mochida K, Ogura A, Masuya H, Kawamoto S, Tamura M, Obata Y, Shiroishi T, Yoshiki A.
  "Mouse resources at the RIKEN BioResource Research Center and the National BioResource Project core facility in Japan."
  Mamm Genome 33(1):181-191. (2022).

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