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

Year Number of Results
1966 1
1972 1
1973 3
1974 6
1975 3
1977 1
1978 2
1979 1
1981 4
1982 2
1983 3
1984 4
1985 7
1986 2
1987 1
1988 2
1989 3
1990 2
1991 1
1992 6
1993 2
1994 2
1995 8
1996 2
1997 6
1998 4
1999 8
2000 6
2001 7
2002 3
2003 5
2004 3
2005 11
2006 5
2007 4
2008 9
2009 4
2010 1
2011 1
2012 3
2013 3
2014 3
2015 4
2016 6
2017 7
2018 9
2019 9
2020 11
2021 18
2022 28
2023 20
2024 20
2025 13

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282 results

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Page 1
VEXAS syndrome.
Uchino K, Kanasugi J, Enomoto M, Kitamura F, Tsuchida N, Uchiyama Y, Maeda A, Kirino Y, Matsumoto N, Takami A. Uchino K, et al. Among authors: tsuchida n. Int J Hematol. 2022 Oct;116(4):463-464. doi: 10.1007/s12185-022-03448-z. Epub 2022 Sep 3. Int J Hematol. 2022. PMID: 36056988 No abstract available.
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: tsuchida n. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 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: tsuchida n. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Non-IgG4-related Multifocal Fibrosclerosis.
Kunishita Y, Yoshimi R, Takeno M, Yamanaka S, Sugiyama Y, Tsuchida N, Kishimoto D, Kamiyama R, Minegishi K, Hama M, Kirino Y, Ishigatsubo Y, Ueda A, Nakajima H. Kunishita Y, et al. Among authors: tsuchida n. Intern Med. 2016;55(17):2497-502. doi: 10.2169/internalmedicine.55.6297. Epub 2016 Sep 1. Intern Med. 2016. PMID: 27580557 Free article.
Clinical and genetic spectrum of patients with IRF2BPL syndrome.
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, Ohashi K, Hattori A, Yoshida N, Azuma Y, Watanabe A, Ikeda C, Shimizu-Motohashi Y, Kusabiraki S, Nakagawa E, Sasaki M, Sugai K, Ohori S, Tsuchida N, Hamanaka K, Koshimizu E, Fujita A, Nakashima M, Miyatake S, Sengoku T, Ogata K, Saitoh S, Saitsu H, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. Among authors: tsuchida n. J Hum Genet. 2025 Apr;70(4):181-188. doi: 10.1038/s10038-025-01316-2. Epub 2025 Jan 22. J Hum Genet. 2025. PMID: 39843638
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese.
Miyatake S, Doi H, Yaguchi H, Koshimizu E, Kihara N, Matsubara T, Mori Y, Kunieda K, Shimizu Y, Toyota T, Shirai S, Matsushima M, Okubo M, Wada T, Kunii M, Johkura K, Miyamoto R, Osaki Y, Miyama T, Satoh M, Fujita A, Uchiyama Y, Tsuchida N, Misawa K, Hamanaka K, Hamanoue H, Mizuguchi T, Morino H, Izumi Y, Shimohata T, Yoshida K, Adachi H, Tanaka F, Yabe I, Matsumoto N. Miyatake S, et al. Among authors: tsuchida n. J Neurol Neurosurg Psychiatry. 2024 Nov 18;95(12):1187-1195. doi: 10.1136/jnnp-2024-333541. J Neurol Neurosurg Psychiatry. 2024. PMID: 38816190 Free article.
Monogenic causes of pigmentary mosaicism.
Saida K, Chong PF, Yamaguchi A, Saito N, Ikehara H, Koshimizu E, Miyata R, Ishiko A, Nakamura K, Ohnishi H, Fujioka K, Sakakibara T, Asada H, Ogawa K, Kudo K, Ohashi E, Kawai M, Abe Y, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Miyake N, Kato M, Kira R, Matsumoto N. Saida K, et al. Among authors: tsuchida n. Hum Genet. 2022 Nov;141(11):1771-1784. doi: 10.1007/s00439-022-02437-w. Epub 2022 May 3. Hum Genet. 2022. PMID: 35503477
Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome.
Maeda A, Tsuchida N, Uchiyama Y, Horita N, Kobayashi S, Kishimoto M, Kobayashi D, Matsumoto H, Asano T, Migita K, Kato A, Mori I, Morita H, Matsubara A, Marumo Y, Ito Y, Machiyama T, Shirai T, Ishii T, Kishibe M, Yoshida Y, Hirata S, Akao S, Higuchi A, Rokutanda R, Nagahata K, Takahashi H, Katsuo K, Ohtani T, Fujiwara H, Nagano H, Hosokawa T, Ito T, Haji Y, Yamaguchi H, Hagino N, Shimizu T, Koga T, Kawakami A, Kageyama G, Kobayashi H, Aoki A, Mizokami A, Takeuchi Y, Motohashi R, Hagiyama H, Itagane M, Teruya H, Kato T, Miyoshi Y, Kise T, Yokogawa N, Ishida T, Umeda N, Isogai S, Naniwa T, Yamabe T, Uchino K, Kanasugi J, Takami A, Kondo Y, Furuhashi K, Saito K, Ohno S, Kishimoto D, Yamamoto M, Fujita Y, Fujieda Y, Araki S, Tsushima H, Misawa K, Katagiri A, Kobayashi T, Hashimoto K, Sone T, Hidaka Y, Ida H, Nishikomori R, Doi H, Fujimaki K, Akasaka K, Amano M, Matsushima H, Kashino K, Ohnishi H, Miwa Y, Takahashi N, Takase-Minegishi K, Yoshimi R, Kirino Y, Nakajima H, Matsumoto N. Maeda A, et al. Among authors: tsuchida n. Rheumatology (Oxford). 2024 Aug 1;63(8):2056-2064. doi: 10.1093/rheumatology/kead425. Rheumatology (Oxford). 2024. PMID: 37606963
Hemizygous SMARCA1 variants cause X-linked intellectual disability.
Nishimura N, Mizuguchi T, Hamada K, Yuge K, Sakamoto M, Tsuchida N, Uchiyama Y, Fujita A, Koshimizu E, Misawa K, Miyatake S, Watanabe Y, Osaka H, Yoshiura KI, Ogata K, Matsumoto N. Nishimura N, et al. Among authors: tsuchida n. J Hum Genet. 2025 Jul;70(7):359-363. doi: 10.1038/s10038-025-01346-w. Epub 2025 May 2. J Hum Genet. 2025. PMID: 40316778
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
Inamori KI, Nakamura K, Shishido F, Hsu JC, Nagafuku M, Nitta T, Ikeda J, Yoshimura H, Kodaira M, Tsuchida N, Matsumoto N, Uemura S, Ohno S, Manabe N, Yamaguchi Y, Togayachi A, Aoki-Kinoshita KF, Nishihara S, Furukawa JI, Kaname T, Nakamura M, Shimohata T, Tadaka S, Shirota M, Kinoshita K, Nakamura Y, Ohno I, Sekijima Y, Inokuchi JI. Inamori KI, et al. Among authors: tsuchida n. Front Neurosci. 2024 Jul 31;18:1437668. doi: 10.3389/fnins.2024.1437668. eCollection 2024. Front Neurosci. 2024. PMID: 39145292 Free PMC article.
282 results