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Page 1
Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.
Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, Carrami EM, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, Dhar S, Zhang RY, Campo L, Myers KA, Lozano M, Ruiz-Miró M, Gatius S, Mota A, Moreno-Bueno G, Matias-Guiu X, Benítez J, Witty L, McVean G, Leedham S, Tomlinson I, Drmanac R, Cazier JB, Klein R, Dunne K, Bast RC Jr, Kennedy SH, Hassan B, Lise S, Garcia MJ, Peters BA, Yau C, Sauka-Spengler T, Ahmed AA. Hellner K, et al. Among authors: tearle r. EBioMedicine. 2016 Aug;10:137-49. doi: 10.1016/j.ebiom.2016.06.048. Epub 2016 Jul 2. EBioMedicine. 2016. PMID: 27492892 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.
Quantitative Whole Genome Sequencing of Circulating Tumor Cells Enables Personalized Combination Therapy of Metastatic Cancer.
Gulbahce N, Magbanua MJM, Chin R, Agarwal MR, Luo X, Liu J, Hayden DM, Mao Q, Ciotlos S, Li Z, Chen Y, Chen X, Li Y, Zhang RY, Lee K, Tearle R, Park E, Drmanac S, Rugo HS, Park JW, Drmanac R, Peters BA. Gulbahce N, et al. Among authors: tearle r. Cancer Res. 2017 Aug 15;77(16):4530-4541. doi: 10.1158/0008-5472.CAN-17-0688. Cancer Res. 2017. PMID: 28811315
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.
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.
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.
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.
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
43 results