Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

3,347 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
Kanazashi Y, Usui Y, Iwasaki Y, Sasagawa S, Endo M, Yamaguchi M, Johnson TA, Maejima K, Shiraishi K, Kohno T, Yoshida T, Sugano K, Murakami Y, Kamatani Y, Matsumoto N, Matsuda K, Momozawa Y, Nakagawa H. Kanazashi Y, et al. Among authors: matsumoto n. J Hum Genet. 2024 Dec 12. doi: 10.1038/s10038-024-01311-z. Online ahead of print. J Hum Genet. 2024. PMID: 39663357
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S, Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y, Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Abe-Hatano C, et al. Among authors: matsumoto n. Am J Med Genet A. 2021 May;185(5):1468-1480. doi: 10.1002/ajmg.a.62138. Epub 2021 Feb 24. Am J Med Genet A. 2021. PMID: 33624935 Free PMC article.
Human genetic variation database, a reference database of genetic variations in the Japanese population.
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Higasa K, et al. Among authors: matsumoto n. J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25. J Hum Genet. 2016. PMID: 26911352 Free PMC article.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y. Makrythanasis P, et al. Among authors: matsumoto n. Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996948 Free PMC article.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L; Genomics England Research Consortium; Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Shepherdson JL, et al. Among authors: matsumoto n. Am J Hum Genet. 2024 Mar 7;111(3):487-508. doi: 10.1016/j.ajhg.2024.01.007. Epub 2024 Feb 6. Am J Hum Genet. 2024. PMID: 38325380 Free PMC article.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N. Inoue Y, et al. Among authors: matsumoto n. J Hum Genet. 2024 Apr;69(3-4):163-167. doi: 10.1038/s10038-024-01219-8. Epub 2024 Jan 17. J Hum Genet. 2024. PMID: 38228874
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: matsumoto n. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.
3,347 results