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

Year Number of Results
1964 1
1966 2
1967 2
1968 3
1969 1
1970 2
1971 2
1972 1
1973 1
1974 1
1976 2
1977 1
1978 1
1980 2
1981 2
1982 2
1983 2
1984 3
1985 1
1986 7
1987 6
1988 9
1989 7
1990 13
1991 14
1992 10
1993 18
1994 10
1995 13
1996 8
1997 5
1998 3
1999 3
2000 2
2001 5
2002 5
2003 1
2004 8
2005 12
2006 18
2007 6
2008 16
2009 13
2010 11
2011 18
2012 16
2013 13
2014 19
2015 25
2016 22
2017 31
2018 44
2019 38
2020 39
2021 50
2022 33
2023 37
2024 32
2025 35

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626 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: mizuguchi t. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Among authors: mizuguchi t. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Miyatake S, et al. Among authors: mizuguchi t. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
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: mizuguchi t. 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: mizuguchi t. 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: mizuguchi t. Hum Genet. 2022 Nov;141(11):1771-1784. doi: 10.1007/s00439-022-02437-w. Epub 2022 May 3. Hum Genet. 2022. PMID: 35503477
In Vitro Analyses of Spinach-Derived Opioid Peptides, Rubiscolins: Receptor Selectivity and Intracellular Activities through G Protein- and β-Arrestin-Mediated Pathways.
Karasawa Y, Miyano K, Fujii H, Mizuguchi T, Kuroda Y, Nonaka M, Komatsu A, Ohshima K, Yamaguchi M, Yamaguchi K, Iseki M, Uezono Y, Hayashida M. Karasawa Y, et al. Among authors: mizuguchi t. Molecules. 2021 Oct 8;26(19):6079. doi: 10.3390/molecules26196079. Molecules. 2021. PMID: 34641621 Free PMC article.
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Hamanaka K, Fujita A, Miyatake S, Misawa K, Koshimizu E, Uchiyama Y, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama H, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi JI, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, Matsumoto N. Hamanaka K, et al. Among authors: mizuguchi t. NPJ Genom Med. 2025 Aug 26;10(1):60. doi: 10.1038/s41525-025-00521-4. NPJ Genom Med. 2025. PMID: 40858643 Free PMC article.
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
van der Laan L, Silva A, Kleinendorst L, Rooney K, Haghshenas S, Lauffer P, Alanay Y, Bhai P, Brusco A, de Munnik S, de Vries BBA, Vega AD, Engelen M, Herkert JC, Hochstenbach R, Hopman S, Kant SG, Kira R, Kato M, Keren B, Kroes HY, Levy MA, Lock-Hock N, Maas SM, Mancini GMS, Marcelis C, Matsumoto N, Mizuguchi T, Mussa A, Mignot C, Närhi A, Nordgren A, Pfundt R, Polstra AM, Trajkova S, van Bever Y, José van den Boogaard M, van der Smagt JJ, Barakat TS, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: mizuguchi t. HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4. HGG Adv. 2025. PMID: 39501558 Free PMC article.
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: mizuguchi t. 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
626 results