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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: terao c. J Med Genet. 2024 Mar 18:jmg-2023-109750. doi: 10.1136/jmg-2023-109750. Online ahead of print. J Med Genet. 2024. PMID: 38499336
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K, Kanazashi Y, Kawada C, Sekine Y, Maejima K, Ashida S, Karashima T, Kojima S, Parrish NF, Kosugi S, Terao C, Sasagawa S, Fujita M, Johnson TA, Momozawa Y, Inoue K, Shuin T, Nakagawa H. Tamura K, et al. Among authors: terao c. Hum Mol Genet. 2023 Jun 5;32(12):2046-2054. doi: 10.1093/hmg/ddad039. Hum Mol Genet. 2023. PMID: 36905328 Free PMC article.
Detection of trait-associated structural variations using short-read sequencing.
Kosugi S, Kamatani Y, Harada K, Tomizuka K, Momozawa Y, Morisaki T; BioBank Japan Project; Terao C. Kosugi S, et al. Among authors: terao c. Cell Genom. 2023 May 18;3(6):100328. doi: 10.1016/j.xgen.2023.100328. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388916 Free PMC article.
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Nakamura R, Tohnai G, Nakatochi M, Atsuta N, Watanabe H, Ito D, Katsuno M, Hirakawa A, Izumi Y, Morita M, Hirayama T, Kano O, Kanai K, Hattori N, Taniguchi A, Suzuki N, Aoki M, Iwata I, Yabe I, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Abe K, Mizoguchi K, Shimizu T, Ikeda Y, Yokota T, Hasegawa K, Tanaka F, Nakashima K, Kaji R, Niwa JI, Doyu M, Terao C, Ikegawa S, Fujimori K, Nakamura S, Ozawa F, Morimoto S, Onodera K, Ito T, Okada Y, Okano H, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group. Nakamura R, et al. Among authors: terao c. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):816-824. doi: 10.1136/jnnp-2022-330851. Epub 2023 May 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37142397
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat MM, Kentistou K, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman B, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman N, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: terao c. medRxiv [Preprint]. 2023 Jan 31:2023.01.28.23285140. doi: 10.1101/2023.01.28.23285140. medRxiv. 2023. PMID: 36778285 Free PMC article. Preprint.
238 results