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Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Gilissen C, et al. Among authors: tearle r. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4. Nature. 2014. PMID: 24896178 Free article.
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC. Ellingford JM, et al. Among authors: tearle r. Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9. Ophthalmology. 2016. PMID: 26872967 Free PMC article.
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.
Peters BA, Kermani BG, Alferov O, Agarwal MR, McElwain MA, Gulbahce N, Hayden DM, Tang YT, Zhang RY, Tearle R, Crain B, Prates R, Berkeley A, Munné S, Drmanac R. Peters BA, et al. Among authors: tearle r. Genome Res. 2015 Mar;25(3):426-34. doi: 10.1101/gr.181255.114. Epub 2015 Feb 11. Genome Res. 2015. PMID: 25672852 Free PMC article.
Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle.
Low WY, Tearle R, Liu R, Koren S, Rhie A, Bickhart DM, Rosen BD, Kronenberg ZN, Kingan SB, Tseng E, Thibaud-Nissen F, Martin FJ, Billis K, Ghurye J, Hastie AR, Lee J, Pang AWC, Heaton MP, Phillippy AM, Hiendleder S, Smith TPL, Williams JL. Low WY, et al. Among authors: tearle r. Nat Commun. 2020 Apr 29;11(1):2071. doi: 10.1038/s41467-020-15848-y. Nat Commun. 2020. PMID: 32350247 Free PMC article.
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death.
Armes JE, Williams M, Price G, Wallis T, Gallagher R, Matsika A, Joy C, Galea M, Gardener G, Leach R, Swagemakers SM, Tearle R, Stubbs A, Harraway J, van der Spek PJ, Venter DJ. Armes JE, et al. Among authors: tearle r. Pediatr Dev Pathol. 2018 Jan-Feb;21(1):54-67. doi: 10.1177/1093526617715528. Epub 2017 Jun 22. Pediatr Dev Pathol. 2018. PMID: 28641477
A robust benchmark for detection of germline large deletions and insertions.
Zook JM, Hansen NF, Olson ND, Chapman L, Mullikin JC, Xiao C, Sherry S, Koren S, Phillippy AM, Boutros PC, Sahraeian SME, Huang V, Rouette A, Alexander N, Mason CE, Hajirasouliha I, Ricketts C, Lee J, Tearle R, Fiddes IT, Barrio AM, Wala J, Carroll A, Ghaffari N, Rodriguez OL, Bashir A, Jackman S, Farrell JJ, Wenger AM, Alkan C, Soylev A, Schatz MC, Garg S, Church G, Marschall T, Chen K, Fan X, English AC, Rosenfeld JA, Zhou W, Mills RE, Sage JM, Davis JR, Kaiser MD, Oliver JS, Catalano AP, Chaisson MJP, Spies N, Sedlazeck FJ, Salit M. Zook JM, et al. Among authors: tearle r. Nat Biotechnol. 2020 Nov;38(11):1347-1355. doi: 10.1038/s41587-020-0538-8. Epub 2020 Jun 15. Nat Biotechnol. 2020. PMID: 32541955 Free PMC article.
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.
Jacob-Hirsch J, Eyal E, Knisbacher BA, Roth J, Cesarkas K, Dor C, Farage-Barhom S, Kunik V, Simon AJ, Gal M, Yalon M, Moshitch-Moshkovitz S, Tearle R, Constantini S, Levanon EY, Amariglio N, Rechavi G. Jacob-Hirsch J, et al. Among authors: tearle r. Cell Res. 2018 Feb;28(2):187-203. doi: 10.1038/cr.2018.8. Epub 2018 Jan 12. Cell Res. 2018. PMID: 29327725 Free PMC article.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: tearle rg. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
Pollitt syndrome patients carry mutation in TTDN1.
Swagemakers SM, Jaspers NG, Raams A, Heijsman D, Vermeulen W, Troelstra C, Kremer A, Lincoln SE, Tearle R, Hoeijmakers JH, van der Spek PJ. Swagemakers SM, et al. Among authors: tearle r. Meta Gene. 2014 Aug 30;2:616-8. doi: 10.1016/j.mgene.2014.08.001. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606444 Free PMC article.
43 results