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869 results

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Page 1
AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes.
Dicks E, Teague JW, Stephens P, Raine K, Yates A, Mattocks C, Tarpey P, Butler A, Menzies A, Richardson D, Jenkinson A, Davies H, Edkins S, Forbes S, Gray K, Greenman C, Shepherd R, Stratton MR, Futreal PA, Wooster R. Dicks E, et al. Among authors: stephens p. Bioinformatics. 2007 Jul 1;23(13):1689-91. doi: 10.1093/bioinformatics/btm152. Epub 2007 May 7. Bioinformatics. 2007. PMID: 17485433 Free PMC article.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. Tarpey PS, et al. Among authors: stephens p. Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19. Nat Genet. 2009. PMID: 19377476 Free PMC article.
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, Pellagatti A, Wainscoat JS, Hellstrom-Lindberg E, Gambacorti-Passerini C, Godfrey AL, Rapado I, Cvejic A, Rance R, McGee C, Ellis P, Mudie LJ, Stephens PJ, McLaren S, Massie CE, Tarpey PS, Varela I, Nik-Zainal S, Davies HR, Shlien A, Jones D, Raine K, Hinton J, Butler AP, Teague JW, Baxter EJ, Score J, Galli A, Della Porta MG, Travaglino E, Groves M, Tauro S, Munshi NC, Anderson KC, El-Naggar A, Fischer A, Mustonen V, Warren AJ, Cross NC, Green AR, Futreal PA, Stratton MR, Campbell PJ; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Papaemmanuil E, et al. Among authors: stephens pj. N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26. N Engl J Med. 2011. PMID: 21995386 Free PMC article.
Somatic structural rearrangements in genetically engineered mouse mammary tumors.
Varela I, Klijn C, Stephens PJ, Mudie LJ, Stebbings L, Galappaththige D, van der Gulden H, Schut E, Klarenbeek S, Campbell PJ, Wessels LF, Stratton MR, Jonkers J, Futreal PA, Adams DJ. Varela I, et al. Among authors: stephens pj. Genome Biol. 2010;11(10):R100. doi: 10.1186/gb-2010-11-10-r100. Epub 2010 Oct 13. Genome Biol. 2010. PMID: 20942901 Free PMC article.
Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.
Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K; FACT collaboration; Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N. Slade I, et al. Among authors: stephens p. J Med Genet. 2010 May;47(5):342-7. doi: 10.1136/jmg.2009.072983. Epub 2009 Nov 30. J Med Genet. 2010. PMID: 19948536
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR, Connelly CF, Fabrizio D, Gay L, Ali SM, Ennis R, Schrock A, Campbell B, Shlien A, Chmielecki J, Huang F, He Y, Sun J, Tabori U, Kennedy M, Lieber DS, Roels S, White J, Otto GA, Ross JS, Garraway L, Miller VA, Stephens PJ, Frampton GM. Chalmers ZR, et al. Genome Med. 2017 Apr 19;9(1):34. doi: 10.1186/s13073-017-0424-2. Genome Med. 2017. PMID: 28420421 Free PMC article.
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX, He Y, Sanford E, Montesion M, Frampton GM, Vignot S, Soria JC, Ross JS, Miller VA, Stephens PJ, Lipson D, Yelensky R. Sun JX, et al. PLoS Comput Biol. 2018 Feb 7;14(2):e1005965. doi: 10.1371/journal.pcbi.1005965. eCollection 2018 Feb. PLoS Comput Biol. 2018. PMID: 29415044 Free PMC article.
Tumor mutational burden and response to programmed cell death protein 1 inhibitors in a case series of patients with metastatic desmoplastic melanoma.
Boussemart L, Johnson A, Schrock AB, Pal SK, Frampton GM, Fabrizio D, Chalmers Z, Lotem M, Gibney G, Russell J, Chmielowski B, Ross JS, Stephens PJ, Miller VA, Ali SM. Boussemart L, et al. J Am Acad Dermatol. 2019 Jun;80(6):1780-1782. doi: 10.1016/j.jaad.2018.12.020. Epub 2018 Dec 18. J Am Acad Dermatol. 2019. PMID: 30576761 Free article. No abstract available.
A Novel Next-Generation Sequencing Approach to Detecting Microsatellite Instability and Pan-Tumor Characterization of 1000 Microsatellite Instability-High Cases in 67,000 Patient Samples.
Trabucco SE, Gowen K, Maund SL, Sanford E, Fabrizio DA, Hall MJ, Yakirevich E, Gregg JP, Stephens PJ, Frampton GM, Hegde PS, Miller VA, Ross JS, Hartmaier RJ, Huang SA, Sun JX. Trabucco SE, et al. Among authors: stephens pj. J Mol Diagn. 2019 Nov;21(6):1053-1066. doi: 10.1016/j.jmoldx.2019.06.011. Epub 2019 Aug 22. J Mol Diagn. 2019. PMID: 31445211 Free PMC article.
869 results