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

Year Number of Results
2000 4
2001 1
2002 5
2003 6
2004 3
2005 1
2006 1
2007 1
2010 5
2011 17
2012 16
2013 33
2014 36
2015 34
2016 27
2017 9
2018 14
2019 14
2020 14
2021 10
2022 6
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209 results
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Page 1
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Takata A, et al. Among authors: tsurusaki y. Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074. Cell Rep. 2018. PMID: 29346770 Free article.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: tsurusaki y. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy.
Kashiki H, Li H, Miyamoto S, Ueno H, Tsurusaki Y, Ikeda C, Kurata H, Okada T, Shimazu T, Imamura H, Enomoto Y, Takanashi JI, Kurosawa K, Saitsu H, Inoue K. Kashiki H, et al. Among authors: tsurusaki y. Neurol Genet. 2020 Oct 13;6(6):e524. doi: 10.1212/NXG.0000000000000524. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33134519 Free PMC article.
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
Suzuki T, Suzuki T, Raveau M, Miyake N, Sudo G, Tsurusaki Y, Watanabe T, Sugaya Y, Tatsukawa T, Mazaki E, Shimohata A, Kushima I, Aleksic B, Shiino T, Toyota T, Iwayama Y, Nakaoka K, Ohmori I, Sasaki A, Watanabe K, Hirose S, Kaneko S, Inoue Y, Yoshikawa T, Ozaki N, Kano M, Shimoji T, Matsumoto N, Yamakawa K. Suzuki T, et al. Among authors: tsurusaki y. Ann Clin Transl Neurol. 2020 Jul;7(7):1117-1131. doi: 10.1002/acn3.51093. Epub 2020 Jun 12. Ann Clin Transl Neurol. 2020. PMID: 32530565 Free PMC article.
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K. Nishimura N, et al. Among authors: tsurusaki y. Brain Dev. 2020 Oct;42(9):639-645. doi: 10.1016/j.braindev.2020.05.009. Epub 2020 Jun 19. Brain Dev. 2020. PMID: 32565002
209 results