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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: frazer ka. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.
Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders.
Zhou D, Udpa N, Ronen R, Stobdan T, Liang J, Appenzeller O, Zhao HW, Yin Y, Du Y, Guo L, Cao R, Wang Y, Jin X, Huang C, Jia W, Cao D, Guo G, Gamboa JL, Villafuerte F, Callacondo D, Xue J, Liu S, Frazer KA, Li Y, Bafna V, Haddad GG. Zhou D, et al. Among authors: frazer ka. Am J Hum Genet. 2013 Sep 5;93(3):452-62. doi: 10.1016/j.ajhg.2013.07.011. Epub 2013 Aug 15. Am J Hum Genet. 2013. PMID: 23954164 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: frazer ka. 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: frazer ka. 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.
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: frazer ka. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Gustafson K, Duncan JL, Biswas P, Soto-Hermida A, Matsui H, Jakubosky D, Suk J, Telenti A, Frazer KA, Ayyagari R. Gustafson K, et al. Among authors: frazer ka. Genes (Basel). 2017 Oct 23;8(10):286. doi: 10.3390/genes8100286. Genes (Basel). 2017. PMID: 29065517 Free PMC article.
170 results