Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

865 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
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
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.
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.
Broad, Hybrid Capture-Based Next-Generation Sequencing Identifies Actionable Genomic Alterations in Lung Adenocarcinomas Otherwise Negative for Such Alterations by Other Genomic Testing Approaches.
Drilon A, Wang L, Arcila ME, Balasubramanian S, Greenbowe JR, Ross JS, Stephens P, Lipson D, Miller VA, Kris MG, Ladanyi M, Rizvi NA. Drilon A, et al. Among authors: stephens p. Clin Cancer Res. 2015 Aug 15;21(16):3631-9. doi: 10.1158/1078-0432.CCR-14-2683. Epub 2015 Jan 7. Clin Cancer Res. 2015. PMID: 25567908 Free PMC article.
Comprehensive genomic profiling of anal squamous cell carcinoma reveals distinct genomically defined classes.
Chung JH, Sanford E, Johnson A, Klempner SJ, Schrock AB, Palma NA, Erlich RL, Frampton GM, Chalmers ZR, Vergilio J, Rubinson DA, Sun JX, Chmielecki J, Yelensky R, Suh JH, Lipson D, George TJ Jr, Elvin JA, Stephens PJ, Miller VA, Ross JS, Ali SM. Chung JH, et al. Among authors: stephens pj. Ann Oncol. 2016 Jul;27(7):1336-41. doi: 10.1093/annonc/mdw152. Epub 2016 Apr 6. Ann Oncol. 2016. PMID: 27052656 Free 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.
865 results