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

Year Number of Results
1964 1
1966 1
1967 1
1979 1
1988 1
1989 1
1991 1
1993 1
1996 1
1997 2
1998 2
1999 2
2000 2
2001 3
2003 7
2004 3
2006 3
2007 4
2008 2
2009 3
2010 9
2011 11
2012 9
2013 14
2014 16
2015 19
2016 15
2017 20
2018 30
2019 25
2020 18
2021 20
2022 9
2023 12
2024 5

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237 results

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Page 1
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Among authors: takata a. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
MicroRNAs and liver disease.
Otsuka M, Kishikawa T, Yoshikawa T, Yamagami M, Ohno M, Takata A, Shibata C, Ishibashi R, Koike K. Otsuka M, et al. Among authors: takata a. J Hum Genet. 2017 Jan;62(1):75-80. doi: 10.1038/jhg.2016.53. Epub 2016 May 26. J Hum Genet. 2017. PMID: 27225852 Review.
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: takata a. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392
MicroRNAs and liver function.
Takata A, Otsuka M, Yoshikawa T, Kishikawa T, Ohno M, Koike K. Takata A, et al. Minerva Gastroenterol Dietol. 2013 Jun;59(2):187-203. Minerva Gastroenterol Dietol. 2013. PMID: 23831909 Review.
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: takata a. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
A novel de novo frameshift variant in SETD1B causes epilepsy.
Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N. Den K, et al. Among authors: takata a. J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110234 Review.
237 results