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Results by year

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

Year Number of Results
1962 1
1963 2
1964 1
1965 3
1966 3
1967 4
1968 2
1969 1
1970 5
1971 3
1972 9
1973 14
1974 9
1975 2
1976 9
1977 11
1978 12
1979 15
1980 11
1981 13
1982 11
1983 28
1984 16
1985 32
1986 16
1987 24
1988 19
1989 17
1990 25
1991 20
1992 12
1993 17
1994 19
1995 28
1996 33
1997 44
1998 37
1999 33
2000 45
2001 48
2002 65
2003 74
2004 85
2005 76
2006 101
2007 102
2008 71
2009 83
2010 89
2011 105
2012 99
2013 127
2014 150
2015 141
2016 158
2017 149
2018 192
2019 190
2020 208
2021 220
2022 214
2023 174
2024 146

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3,257 results

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Page 1
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. Among authors: matsumoto n. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.
Kaneyasu T, Mori S, Yamauchi H, Ohsumi S, Ohno S, Aoki D, Baba S, Kawano J, Miki Y, Matsumoto N, Nagasaki M, Yoshida R, Akashi-Tanaka S, Iwase T, Kitagawa D, Masuda K, Hirasawa A, Arai M, Takei J, Ide Y, Gotoh O, Yaguchi N, Nishi M, Kaneko K, Matsuyama Y, Okawa M, Suzuki M, Nezu A, Yokoyama S, Amino S, Inuzuka M, Noda T, Nakamura S. Kaneyasu T, et al. Among authors: matsumoto n. NPJ Breast Cancer. 2020 Jun 12;6:25. doi: 10.1038/s41523-020-0163-1. eCollection 2020. NPJ Breast Cancer. 2020. PMID: 32566746 Free PMC article.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network; Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C. Parenti I, et al. Among authors: matsumoto n. Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4. Hum Genet. 2021. PMID: 33944996 Free PMC article.
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: matsumoto n. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Lambda Sign: Sarcoidosis.
Matsumoto Y, Yamasaki M, Matsumoto N, Taniwaki M, Hattori N. Matsumoto Y, et al. Among authors: matsumoto n. Arch Bronconeumol (Engl Ed). 2020 Mar;56(3):174-175. doi: 10.1016/j.arbres.2019.03.008. Epub 2019 May 18. Arch Bronconeumol (Engl Ed). 2020. PMID: 31113671 English, Spanish. No abstract available.
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. Among authors: matsumoto n. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 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: matsumoto n. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Crystal structure of Drosophila Piwi.
Yamaguchi S, Oe A, Nishida KM, Yamashita K, Kajiya A, Hirano S, Matsumoto N, Dohmae N, Ishitani R, Saito K, Siomi H, Nishimasu H, Siomi MC, Nureki O. Yamaguchi S, et al. Among authors: matsumoto n. Nat Commun. 2020 Feb 12;11(1):858. doi: 10.1038/s41467-020-14687-1. Nat Commun. 2020. PMID: 32051406 Free PMC article.
Spikes in the sleeping brain.
Ikegaya Y, Matsumoto N. Ikegaya Y, et al. Among authors: matsumoto n. Science. 2019 Oct 18;366(6463):306-307. doi: 10.1126/science.aaz4534. Science. 2019. PMID: 31624199 No abstract available.
3,257 results