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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.
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: nishiguchi km. 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
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 Mar 16;264:36-43. doi: 10.1016/j.ajo.2024.03.007. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38499139 Free article.
Correction: Kanda et al. Body Compression Corrective Garment and Eating Behavioural Change for Weight Reduction: The Mutsu City Randomised Controlled Trial. Healthcare 2023, 11, 942.
Kanda A, Sugimura Y, Ohishi H, Tatebayashi S, Sawada K, Wai KM, Nishiguchi K, Tanabu A, Jung S, Murashita K, Nakaji S, Ihara K. Kanda A, et al. Among authors: nishiguchi k. Healthcare (Basel). 2024 Jan 15;12(2):210. doi: 10.3390/healthcare12020210. Healthcare (Basel). 2024. PMID: 38255138 Free PMC article.
INCIDENCE AND RISK FACTORS OF INTRAOCULAR INFLAMMATION AFTER BROLUCIZUMAB TREATMENT IN JAPAN: A Multicenter Age-Related Macular Degeneration Study.
Inoda S, Takahashi H, Maruyama-Inoue M, Ikeda S, Sekiryu T, Itagaki K, Matsumoto H, Mukai R, Nagai Y, Ohnaka M, Kusuhara S, Miki A, Okada AA, Nakayama M, Nishiguchi KM, Takeuchi J, Mori R, Tanaka K, Honda S, Kohno T, Koizumi H, Miyara Y, Inoue Y, Takana H, Iida T, Maruko I, Hayashi A, Ueda-Consolvo T, Yanagi Y. Inoda S, et al. Among authors: nishiguchi km. Retina. 2024 Apr 1;44(4):714-722. doi: 10.1097/IAE.0000000000004009. Retina. 2024. PMID: 38016089
299 results