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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 5
2006 1
2008 4
2009 3
2010 4
2011 8
2012 10
2013 5
2014 6
2015 8
2016 5
2017 8
2018 12
2019 15
2020 18
2021 18
2022 22
2023 11
2024 8

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153 results

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Page 1
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: murakami 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: murakami y. 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: murakami y. 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.
TLR7 promotes smoke-induced experimental lung damage through the activity of mast cell tryptase.
Liu G, Haw TJ, Starkey MR, Philp AM, Pavlidis S, Nalkurthi C, Nair PM, Gomez HM, Hanish I, Hsu AC, Hortle E, Pickles S, Rojas-Quintero J, Estepar RSJ, Marshall JE, Kim RY, Collison AM, Mattes J, Idrees S, Faiz A, Hansbro NG, Fukui R, Murakami Y, Cheng HS, Tan NS, Chotirmall SH, Horvat JC, Foster PS, Oliver BG, Polverino F, Ieni A, Monaco F, Caramori G, Sohal SS, Bracke KR, Wark PA, Adcock IM, Miyake K, Sin DD, Hansbro PM. Liu G, et al. Among authors: murakami y. Nat Commun. 2023 Nov 14;14(1):7349. doi: 10.1038/s41467-023-42913-z. Nat Commun. 2023. PMID: 37963864 Free PMC article.
153 results