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Page 1
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D, Kirikae H, Nakano T, Katayama S, Yaoita H, Takayama J, Tamiya G, Kure S, Kikuchi A, Sasahara Y. Sato D, et al. Among authors: tamiya g. Pediatr Hematol Oncol. 2024 Nov;41(8):541-556. doi: 10.1080/08880018.2024.2395358. Epub 2024 Sep 24. Pediatr Hematol Oncol. 2024. PMID: 39318204
A patient with early-onset SMAX3 and a novel variant of ATP7A.
Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Shibuya M, et al. Among authors: tamiya g. Brain Dev. 2022 Jan;44(1):63-67. doi: 10.1016/j.braindev.2021.08.004. Epub 2021 Aug 26. Brain Dev. 2022. PMID: 34456088
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, Kawashima A, Okubo Y, Endo W, Inui T, Togashi N, Tanaka S, Kobayashi Y, Onuma A, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Narishige Y, et al. Among authors: tamiya g. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010. Epub 2022 Mar 24. Tohoku J Exp Med. 2022. PMID: 35321980 Free article.
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
Takayama J, Tadaka S, Yano K, Katsuoka F, Gocho C, Funayama T, Makino S, Okamura Y, Kikuchi A, Sugimoto S, Kawashima J, Otsuki A, Sakurai-Yageta M, Yasuda J, Kure S, Kinoshita K, Yamamoto M, Tamiya G. Takayama J, et al. Among authors: tamiya g. Nat Commun. 2021 Jan 11;12(1):226. doi: 10.1038/s41467-020-20146-8. Nat Commun. 2021. PMID: 33431880 Free PMC article.
A fine-scale genetic map of the Japanese population.
Takayama J, Makino S, Funayama T, Ueki M, Narita A, Murakami K, Orui M, Ishikuro M, Obara T; Tohoku Medical Megabank Project Study Group; Kuriyama S, Yamamoto M, Tamiya G. Takayama J, et al. Among authors: tamiya g. Clin Genet. 2024 Sep;106(3):284-292. doi: 10.1111/cge.14536. Epub 2024 May 8. Clin Genet. 2024. PMID: 38719617
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S, Yamaguchi-Kabata Y, Shiga N, Tachibana M, Yasuda J, Tadaka S, Tamiya G, Fuse N, Kinoshita K, Kure S, Murotsuki J, Yamamoto M, Yaegashi N, Sugawara J. Nagaoka S, et al. Among authors: tamiya g. Hum Genome Var. 2021 Jan 15;8(1):2. doi: 10.1038/s41439-020-00133-7. Hum Genome Var. 2021. PMID: 33452237 Free PMC article.
Development of a prognostic prediction support system for cervical intraepithelial neoplasia using artificial intelligence-based diagnosis.
Takahashi T, Matsuoka H, Sakurai R, Akatsuka J, Kobayashi Y, Nakamura M, Iwata T, Banno K, Matsuzaki M, Takayama J, Aoki D, Yamamoto Y, Tamiya G. Takahashi T, et al. Among authors: tamiya g. J Gynecol Oncol. 2022 Sep;33(5):e57. doi: 10.3802/jgo.2022.33.e57. Epub 2022 May 16. J Gynecol Oncol. 2022. PMID: 35712970 Free PMC article.
191 results