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

3,604 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R. Chekuri A, et al. Among authors: matsui h. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5. Hum Genet. 2018. PMID: 29978320 Free PMC article.
Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromsø Study.
Solomon T, Smith EN, Matsui H, Braekkan SK; INVENT Consortium; Wilsgaard T, Njølstad I, Mathiesen EB, Hansen JB, Frazer KA. Solomon T, et al. Among authors: matsui h. Circ Cardiovasc Genet. 2016 Aug;9(4):375-83. doi: 10.1161/CIRCGENETICS.115.001327. Epub 2016 Jun 21. Circ Cardiovasc Genet. 2016. PMID: 27329291 Free PMC article.
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.
Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R. Branham K, et al. Among authors: matsui h. Physiol Genomics. 2016 Dec 1;48(12):922-927. doi: 10.1152/physiolgenomics.00101.2016. Epub 2016 Oct 7. Physiol Genomics. 2016. PMID: 27764769 Free PMC article.
Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.
DeBoever C, Li H, Jakubosky D, Benaglio P, Reyna J, Olson KM, Huang H, Biggs W, Sandoval E, D'Antonio M, Jepsen K, Matsui H, Arias A, Ren B, Nariai N, Smith EN, D'Antonio-Chronowska A, Farley EK, Frazer KA. DeBoever C, et al. Among authors: matsui h. Cell Stem Cell. 2017 Apr 6;20(4):533-546.e7. doi: 10.1016/j.stem.2017.03.009. Cell Stem Cell. 2017. PMID: 28388430 Free PMC article.
iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.
Panopoulos AD, D'Antonio M, Benaglio P, Williams R, Hashem SI, Schuldt BM, DeBoever C, Arias AD, Garcia M, Nelson BC, Harismendy O, Jakubosky DA, Donovan MKR, Greenwald WW, Farnam K, Cook M, Borja V, Miller CA, Grinstein JD, Drees F, Okubo J, Diffenderfer KE, Hishida Y, Modesto V, Dargitz CT, Feiring R, Zhao C, Aguirre A, McGarry TJ, Matsui H, Li H, Reyna J, Rao F, O'Connor DT, Yeo GW, Evans SM, Chi NC, Jepsen K, Nariai N, Müller FJ, Goldstein LSB, Izpisua Belmonte JC, Adler E, Loring JF, Berggren WT, D'Antonio-Chronowska A, Smith EN, Frazer KA. Panopoulos AD, et al. Among authors: matsui h. Stem Cell Reports. 2017 Apr 11;8(4):1086-1100. doi: 10.1016/j.stemcr.2017.03.012. Stem Cell Reports. 2017. PMID: 28410642 Free PMC article.
High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.
D'Antonio M, Woodruff G, Nathanson JL, D'Antonio-Chronowska A, Arias A, Matsui H, Williams R, Herrera C, Reyna SM, Yeo GW, Goldstein LSB, Panopoulos AD, Frazer KA. D'Antonio M, et al. Among authors: matsui h. Stem Cell Reports. 2017 Apr 11;8(4):1101-1111. doi: 10.1016/j.stemcr.2017.03.011. Stem Cell Reports. 2017. PMID: 28410643 Free PMC article.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: matsui h. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
3,604 results