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Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Among authors: murakami a. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
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
Standardization of hemoglobin A2 and hemoglobin F: Achievements and perspectives.
Mosca A, Arsene C, Paleari R, Kaiser P, Harteveld K, Daniel Y, Amano C, Murakami A, Auclair G; IFCC-ICSH Joint Working Group for the Standardization of HbA2 and of the IFCC Working Group for the Standardization of HbF. Mosca A, et al. Among authors: murakami a. Clin Chim Acta. 2024 Dec 9;567:120087. doi: 10.1016/j.cca.2024.120087. Online ahead of print. Clin Chim Acta. 2024. PMID: 39662720
1,699 results