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456 results

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Page 1
A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance.
Eyre DW, Golubchik T, Gordon NC, Bowden R, Piazza P, Batty EM, Ip CL, Wilson DJ, Didelot X, O'Connor L, Lay R, Buck D, Kearns AM, Shaw A, Paul J, Wilcox MH, Donnelly PJ, Peto TE, Walker AS, Crook DW. Eyre DW, et al. Among authors: piazza p. BMJ Open. 2012 Jun 6;2(3):e001124. doi: 10.1136/bmjopen-2012-001124. Print 2012. BMJ Open. 2012. PMID: 22674929 Free PMC article.
Microevolutionary analysis of Clostridium difficile genomes to investigate transmission.
Didelot X, Eyre DW, Cule M, Ip CL, Ansari MA, Griffiths D, Vaughan A, O'Connor L, Golubchik T, Batty EM, Piazza P, Wilson DJ, Bowden R, Donnelly PJ, Dingle KE, Wilcox M, Walker AS, Crook DW, Peto TE, Harding RM. Didelot X, et al. Among authors: piazza p. Genome Biol. 2012 Dec 21;13(12):R118. doi: 10.1186/gb-2012-13-12-r118. Genome Biol. 2012. PMID: 23259504 Free PMC article.
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.
A modified RNA-Seq approach for whole genome sequencing of RNA viruses from faecal and blood samples.
Batty EM, Wong TH, Trebes A, Argoud K, Attar M, Buck D, Ip CL, Golubchik T, Cule M, Bowden R, Manganis C, Klenerman P, Barnes E, Walker AS, Wyllie DH, Wilson DJ, Dingle KE, Peto TE, Crook DW, Piazza P. Batty EM, et al. Among authors: piazza p. PLoS One. 2013 Jun 10;8(6):e66129. doi: 10.1371/journal.pone.0066129. Print 2013. PLoS One. 2013. PMID: 23762474 Free PMC article.
Diverse sources of C. difficile infection identified on whole-genome sequencing.
Eyre DW, Cule ML, Wilson DJ, Griffiths D, Vaughan A, O'Connor L, Ip CLC, Golubchik T, Batty EM, Finney JM, Wyllie DH, Didelot X, Piazza P, Bowden R, Dingle KE, Harding RM, Crook DW, Wilcox MH, Peto TEA, Walker AS. Eyre DW, et al. Among authors: piazza p. N Engl J Med. 2013 Sep 26;369(13):1195-205. doi: 10.1056/NEJMoa1216064. N Engl J Med. 2013. PMID: 24066741 Free PMC article.
Whole genome sequencing and de novo assembly identifies Sydney-like variant noroviruses and recombinants during the winter 2012/2013 outbreak in England.
Wong TH, Dearlove BL, Hedge J, Giess AP, Piazza P, Trebes A, Paul J, Smit E, Smith EG, Sutton JK, Wilcox MH, Dingle KE, Peto TE, Crook DW, Wilson DJ, Wyllie DH. Wong TH, et al. Among authors: piazza p. Virol J. 2013 Nov 13;10:335. doi: 10.1186/1743-422X-10-335. Virol J. 2013. PMID: 24220146 Free PMC article.
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.
Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.
Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Petousi N, Copley RR, Lappin TR, Haggan SE, Bento CM, Cario H, Percy MJ; WGS Consortium; Ratcliffe PJ, Robbins PA, McMullin MF. Petousi N, et al. Haematologica. 2014 Oct;99(10):e201-4. doi: 10.3324/haematol.2014.109306. Epub 2014 Jul 11. Haematologica. 2014. PMID: 25015942 Free PMC article. No abstract available.
456 results