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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: wada 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.
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: wada y. J Med Genet. 2024 Jun 20;61(7):613-620. doi: 10.1136/jmg-2023-109750. J Med Genet. 2024. PMID: 38499336
Investigating self-supervised image denoising with denaturation.
Waida H, Yamazaki K, Tokuhisa A, Wada M, Wada Y. Waida H, et al. Among authors: wada y. Neural Netw. 2024 Dec 4;184:106966. doi: 10.1016/j.neunet.2024.106966. Online ahead of print. Neural Netw. 2024. PMID: 39700824 Free article.
Parvovirus B19-related membranoproliferative glomerulonephritis presenting with positive glomerular staining for nephritis-associated plasmin receptor: a case report and review of the literature.
Takahashi H, Wada Y, Yamazaki T, Takeuchi K, Abe T, Naito S, Aoyama T, Sano T, Moriya R, Oda T, Takeuchi Y. Takahashi H, et al. Among authors: wada y. CEN Case Rep. 2024 Dec 15. doi: 10.1007/s13730-024-00956-1. Online ahead of print. CEN Case Rep. 2024. PMID: 39674998 Free article.
3,735 results