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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: murakami y. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa.
Ikeda Y, Nishiguchi KM, Miya F, Shimozawa N, Funatsu J, Nakatake S, Fujiwara K, Tachibana T, Murakami Y, Hisatomi T, Yoshida S, Yasutomi Y, Tsunoda T, Nakazawa T, Ishibashi T, Sonoda KH. Ikeda Y, et al. Among authors: murakami y. Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):826-830. doi: 10.1167/iovs.17-22958. Invest Ophthalmol Vis Sci. 2018. PMID: 29411010
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Koyanagi Y, et al. Among authors: murakami a, murakami y. J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17. J Med Genet. 2019. PMID: 31213501
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, Aoi T, Hashimoto K, Nakazawa T, Wada Y, Ueno S, Gao D, Murakami A, Hotta Y, Ikeda Y, Nishiguchi KM, Momozawa Y, Sonoda KH, Akiyama M, Fujimoto A. Sano Y, et al. Among authors: murakami a, murakami y. J Med Genet. 2022 Nov;59(11):1133-1138. doi: 10.1136/jmedgenet-2022-108428. Epub 2022 Jun 15. J Med Genet. 2022. PMID: 35710107 Free PMC article.
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.
Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, Torii K, Mizota A, Sakai D, Maeda A, Kominami T, Ueno S, Kusaka S, Nishiguchi KM, Ikeda Y, Kondo M, Tsunoda K, Hotta Y, Nakano T. Mizobuchi K, et al. Among authors: murakami y. Am J Ophthalmol. 2024 Aug;264:36-43. doi: 10.1016/j.ajo.2024.03.007. Epub 2024 Mar 16. Am J Ophthalmol. 2024. PMID: 38499139 Free article.
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM. Goto K, et al. Among authors: murakami a, murakami y. J Med Genet. 2024 Jun 20;61(7):613-620. doi: 10.1136/jmg-2023-109750. J Med Genet. 2024. PMID: 38499336
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Koyanagi Y, et al. Among authors: murakami a, murakami y. Jpn J Ophthalmol. 2021 May;65(3):338-343. doi: 10.1007/s10384-021-00824-w. Epub 2021 Feb 25. Jpn J Ophthalmol. 2021. PMID: 33629268
TNFRSF10A downregulation induces retinal pigment epithelium degeneration during the pathogenesis of age-related macular degeneration and central serous chorioretinopathy.
Mori K, Ishikawa K, Fukuda Y, Ji R, Wada I, Kubo Y, Akiyama M, Notomi S, Murakami Y, Nakao S, Arakawa S, Shiose S, Hisatomi T, Yoshida S, Kannan R, Sonoda KH. Mori K, et al. Among authors: murakami y. Hum Mol Genet. 2022 Jul 7;31(13):2194-2206. doi: 10.1093/hmg/ddac020. Hum Mol Genet. 2022. PMID: 35103281
4,153 results