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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: nishiguchi km. 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.
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: nishiguchi km. 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.
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S. Inooka T, et al. Among authors: nishiguchi km. Retina. 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. Retina. 2024. PMID: 39287548
Genetic Variants Associated With the Onset and Progression of Primary Open-Angle Glaucoma.
Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG). Mabuchi F, et al. Among authors: nishiguchi km. Am J Ophthalmol. 2020 Jul;215:135-140. doi: 10.1016/j.ajo.2020.03.014. Epub 2020 Mar 23. Am J Ophthalmol. 2020. PMID: 32217119
Silicone oil, an intraocular surgical adjuvant, induces retinal ferroptosis.
Shimizu H, Tanaka H, Tazaki A, Yamada K, Suzumura A, Ota J, Ushio-Watanabe N, Zheng H, Kataoka K, Hara H, Nishikawa Y, Yasukawa T, Suzuma K, Terasaki H, Nishiguchi KM, Kato M, Toyokuni S, Kaneko H. Shimizu H, et al. Among authors: nishiguchi km. Free Radic Biol Med. 2024 Dec 18:S0891-5849(24)01148-1. doi: 10.1016/j.freeradbiomed.2024.12.039. Online ahead of print. Free Radic Biol Med. 2024. PMID: 39706501 Free article.
130 results