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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: telenti a. 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.
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: telenti a. 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.
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: telenti a. Genes (Basel). 2017 Oct 23;8(10):286. doi: 10.3390/genes8100286. Genes (Basel). 2017. PMID: 29065517 Free PMC article.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Long T, et al. Among authors: telenti a. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
The human noncoding genome defined by genetic diversity.
di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A. di Iulio J, et al. Among authors: telenti a. Nat Genet. 2018 Mar;50(3):333-337. doi: 10.1038/s41588-018-0062-7. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483654
Identification of individuals by trait prediction using whole-genome sequencing data.
Lippert C, Sabatini R, Maher MC, Kang EY, Lee S, Arikan O, Harley A, Bernal A, Garst P, Lavrenko V, Yocum K, Wong T, Zhu M, Yang WY, Chang C, Lu T, Lee CWH, Hicks B, Ramakrishnan S, Tang H, Xie C, Piper J, Brewerton S, Turpaz Y, Telenti A, Roby RK, Och FJ, Venter JC. Lippert C, et al. Among authors: telenti a. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):10166-10171. doi: 10.1073/pnas.1711125114. Epub 2017 Sep 5. Proc Natl Acad Sci U S A. 2017. PMID: 28874526 Free PMC article.
Fast and accurate HLA typing from short-read next-generation sequence data with xHLA.
Xie C, Yeo ZX, Wong M, Piper J, Long T, Kirkness EF, Biggs WH, Bloom K, Spellman S, Vierra-Green C, Brady C, Scheuermann RH, Telenti A, Howard S, Brewerton S, Turpaz Y, Venter JC. Xie C, et al. Among authors: telenti a. Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):8059-8064. doi: 10.1073/pnas.1707945114. Epub 2017 Jul 3. Proc Natl Acad Sci U S A. 2017. PMID: 28674023 Free PMC article.
Deep sequencing of 10,000 human genomes.
Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC. Telenti A, et al. Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11901-11906. doi: 10.1073/pnas.1613365113. Epub 2016 Oct 4. Proc Natl Acad Sci U S A. 2016. PMID: 27702888 Free PMC article.
593 results