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Results by year

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

Year Number of Results
1950 1
1952 4
1954 3
1955 6
1956 10
1957 4
1958 4
1959 1
1960 3
1961 1
1963 1
1964 1
1965 4
1966 4
1967 2
1968 1
1971 1
1972 4
1974 1
1975 1
1976 2
1979 2
1981 2
1982 1
1983 6
1984 7
1985 9
1986 13
1987 9
1988 4
1989 11
1990 12
1991 10
1992 13
1993 13
1994 17
1995 16
1996 23
1997 10
1998 10
1999 29
2000 34
2001 24
2002 21
2003 25
2004 26
2005 25
2006 23
2007 37
2008 31
2009 31
2010 33
2011 45
2012 35
2013 45
2014 44
2015 44
2016 59
2017 55
2018 73
2019 91
2020 97
2021 118
2022 99
2023 115
2024 43

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Search Results

1,385 results

Results by year

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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: fujita a. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Cannabidiol activates neuronal Kv7 channels.
Zhang HB, Heckman L, Niday Z, Jo S, Fujita A, Shim J, Pandey R, Al Jandal H, Jayakar S, Barrett LB, Smith J, Woolf CJ, Bean BP. Zhang HB, et al. Among authors: fujita a. Elife. 2022 Feb 18;11:e73246. doi: 10.7554/eLife.73246. Elife. 2022. PMID: 35179483 Free PMC article.
A novel NONO variant that causes developmental delay and cardiac phenotypes.
Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N. Itai T, et al. Among authors: fujita a. Sci Rep. 2023 Jan 18;13(1):975. doi: 10.1038/s41598-023-27770-6. Sci Rep. 2023. PMID: 36653413 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. Among authors: fujita a. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
A Case of Kawasaki Disease with Intussusception.
Ueharu K, Asano T, Fukunaga R, Matsui R, Yoshida K, Miyatake-Sudoh C, Abe M, Fujita A, Ito Y. Ueharu K, et al. Among authors: fujita a. J Nippon Med Sch. 2021 Jan 8;87(6):346-349. doi: 10.1272/jnms.JNMS.2020_87-606. Epub 2020 Jun 30. J Nippon Med Sch. 2021. PMID: 32612012 Free article.
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.
Seyama R, Nishikawa M, Uchiyama Y, Hamada K, Yamamoto Y, Takeda M, Ochi T, Kishi M, Suzuki T, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Yao T, Ito H, Itakura A, Ogata K, Nagata KI, Matsumoto N. Seyama R, et al. Among authors: fujita a. Sci Rep. 2023 Jun 16;13(1):9789. doi: 10.1038/s41598-023-36381-0. Sci Rep. 2023. PMID: 37328543 Free PMC article.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Strømme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Saida K, et al. Among authors: fujita a. Genet Med. 2023 Jan;25(1):90-102. doi: 10.1016/j.gim.2022.09.010. Epub 2022 Oct 31. Genet Med. 2023. PMID: 36318270 Free article.
1,385 results