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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

238 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection.
Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat MM, Kentistou K, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman B, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman N, Song L, Gardner EJ, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ. Liu A, et al. Among authors: terao c. medRxiv [Preprint]. 2023 Jan 31:2023.01.28.23285140. doi: 10.1101/2023.01.28.23285140. medRxiv. 2023. PMID: 36778285 Free PMC article. Preprint.
Influences of rare copy-number variation on human complex traits.
Hujoel MLA, Sherman MA, Barton AR, Mukamel RE, Sankaran VG, Terao C, Loh PR. Hujoel MLA, et al. Among authors: terao c. Cell. 2022 Oct 27;185(22):4233-4248.e27. doi: 10.1016/j.cell.2022.09.028. Cell. 2022. PMID: 36306736 Free PMC article.
Hidden protein-altering variants influence diverse human phenotypes.
Hujoel MLA, Handsaker RE, Sherman MA, Kamitaki N, Barton AR, Mukamel RE, Terao C, McCarroll SA, Loh PR. Hujoel MLA, et al. Among authors: terao c. bioRxiv [Preprint]. 2023 Jun 9:2023.06.07.544066. doi: 10.1101/2023.06.07.544066. bioRxiv. 2023. PMID: 37333244 Free PMC article. Updated. Preprint.
Detection of trait-associated structural variations using short-read sequencing.
Kosugi S, Kamatani Y, Harada K, Tomizuka K, Momozawa Y, Morisaki T; BioBank Japan Project; Terao C. Kosugi S, et al. Among authors: terao c. Cell Genom. 2023 May 18;3(6):100328. doi: 10.1016/j.xgen.2023.100328. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388916 Free PMC article.
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K, Kanazashi Y, Kawada C, Sekine Y, Maejima K, Ashida S, Karashima T, Kojima S, Parrish NF, Kosugi S, Terao C, Sasagawa S, Fujita M, Johnson TA, Momozawa Y, Inoue K, Shuin T, Nakagawa H. Tamura K, et al. Among authors: terao c. Hum Mol Genet. 2023 Jun 5;32(12):2046-2054. doi: 10.1093/hmg/ddad039. Hum Mol Genet. 2023. PMID: 36905328 Free PMC article.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: terao c. bioRxiv [Preprint]. 2023 Nov 22:2023.05.26.542293. doi: 10.1101/2023.05.26.542293. bioRxiv. 2023. PMID: 37292598 Free PMC article. Updated. Preprint.
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM. Goto K, et al. Among authors: terao c. J Med Genet. 2024 Mar 18:jmg-2023-109750. doi: 10.1136/jmg-2023-109750. Online ahead of print. J Med Genet. 2024. PMID: 38499336
238 results