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428 results

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Page 1
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Kaiser VB, Svinti V, Prendergast JG, Chau YY, Campbell A, Patarcic I, Barroso I, Joshi PK, Hastie ND, Miljkovic A, Taylor MS; Generation Scotland; UK10K; Enroth S, Memari Y, Kolb-Kokocinski A, Wright AF, Gyllensten U, Durbin R, Rudan I, Campbell H, Polašek O, Johansson Å, Sauer S, Porteous DJ, Fraser RM, Drake C, Vitart V, Hayward C, Semple CA, Wilson JF. Kaiser VB, et al. Among authors: taylor ms. Hum Mol Genet. 2015 Oct 1;24(19):5464-74. doi: 10.1093/hmg/ddv272. Epub 2015 Jul 14. Hum Mol Genet. 2015. PMID: 26173456 Free PMC article.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO; UK10K Consortium; Fitzpatrick DR. Williamson KA, et al. Among authors: taylor ms. Am J Hum Genet. 2014 Feb 6;94(2):295-302. doi: 10.1016/j.ajhg.2014.01.001. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462371 Free PMC article.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Rainger J, et al. Among authors: taylor ms. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005. Am J Hum Genet. 2014. PMID: 24906020 Free PMC article.
Exome sequencing to detect rare variants associated with general cognitive ability: a pilot study.
Luciano M, Svinti V, Campbell A, Marioni RE, Hayward C, Wright AF, Taylor MS, Porteous DJ, Thomson P, Prendergast JG, Hastie ND, Farrington SM, Scotland G, Dunlop MG, Deary IJ. Luciano M, et al. Among authors: taylor ms. Twin Res Hum Genet. 2015 Apr;18(2):117-25. doi: 10.1017/thg.2015.10. Epub 2015 Mar 6. Twin Res Hum Genet. 2015. PMID: 25744449 Free article. Clinical Trial.
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Halachev M, Meynert A, Taylor MS, Vitart V, Kerr SM, Klaric L; S. G. P. Consortium; Aitman TJ, Haley CS, Prendergast JG, Pugh C, Hume DA, Harris SE, Liewald DC, Deary IJ, Semple CA, Wilson JF. Halachev M, et al. Among authors: taylor ms. PLoS Genet. 2019 Nov 25;15(11):e1008480. doi: 10.1371/journal.pgen.1008480. eCollection 2019 Nov. PLoS Genet. 2019. PMID: 31765389 Free PMC article.
Pervasive lesion segregation shapes cancer genome evolution.
Aitken SJ, Anderson CJ, Connor F, Pich O, Sundaram V, Feig C, Rayner TF, Lukk M, Aitken S, Luft J, Kentepozidou E, Arnedo-Pac C, Beentjes SV, Davies SE, Drews RM, Ewing A, Kaiser VB, Khamseh A, López-Arribillaga E, Redmond AM, Santoyo-Lopez J, Sentís I, Talmane L, Yates AD; Liver Cancer Evolution Consortium; Semple CA, López-Bigas N, Flicek P, Odom DT, Taylor MS. Aitken SJ, et al. Among authors: taylor ms. Nature. 2020 Jul;583(7815):265-270. doi: 10.1038/s41586-020-2435-1. Epub 2020 Jun 24. Nature. 2020. PMID: 32581361 Free PMC article.
428 results