Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 44

1.

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.

Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6.

2.

Integrative Molecular Characterization of Malignant Pleural Mesothelioma.

Hmeljak J, Sanchez-Vega F, Hoadley KA, Shih J, Stewart C, Heiman D, Tarpey P, Danilova L, Drill E, Gibb EA, Bowlby R, Kanchi R, Osmanbeyoglu HU, Sekido Y, Takeshita J, Newton Y, Graim K, Gupta M, Gay CM, Diao L, Gibbs DL, Thorsson V, Iype L, Kantheti H, Severson DT, Ravegnini G, Desmeules P, Jungbluth AA, Travis WD, Dacic S, Chirieac LR, Galateau-Sallé F, Fujimoto J, Husain AN, Silveira HC, Rusch VW, Rintoul RC, Pass H, Kindler H, Zauderer MG, Kwiatkowski DJ, Bueno R, Tsao AS, Creaney J, Lichtenberg T, Leraas K, Bowen J; TCGA Research Network, Felau I, Zenklusen JC, Akbani R, Cherniack AD, Byers LA, Noble MS, Fletcher JA, Robertson AG, Shen R, Aburatani H, Robinson BW, Campbell P, Ladanyi M.

Cancer Discov. 2018 Dec;8(12):1548-1565. doi: 10.1158/2159-8290.CD-18-0804. Epub 2018 Oct 15.

3.

An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Collord G, Tarpey P, Kurbatova N, Martincorena I, Moran S, Castro M, Nagy T, Bignell G, Maura F, Young MD, Berna J, Tubio JMC, McMurran CE, Young AMH, Sanders M, Noorani I, Price SJ, Watts C, Leipnitz E, Kirsch M, Schackert G, Pearson D, Devadass A, Ram Z, Collins VP, Allinson K, Jenkinson MD, Zakaria R, Syed K, Hanemann CO, Dunn J, McDermott MW, Kirollos RW, Vassiliou GS, Esteller M, Behjati S, Brazma A, Santarius T, McDermott U.

Sci Rep. 2018 Sep 10;8(1):13537. doi: 10.1038/s41598-018-31659-0.

4.

Genomic patterns of progression in smoldering multiple myeloma.

Bolli N, Maura F, Minvielle S, Gloznik D, Szalat R, Fullam A, Martincorena I, Dawson KJ, Samur MK, Zamora J, Tarpey P, Davies H, Fulciniti M, Shammas MA, Tai YT, Magrangeas F, Moreau P, Corradini P, Anderson K, Alexandrov L, Wedge DC, Avet-Loiseau H, Campbell P, Munshi N.

Nat Commun. 2018 Aug 22;9(1):3363. doi: 10.1038/s41467-018-05058-y.

5.

Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.

Mitchell TJ, Turajlic S, Rowan A, Nicol D, Farmery JHR, O'Brien T, Martincorena I, Tarpey P, Angelopoulos N, Yates LR, Butler AP, Raine K, Stewart GD, Challacombe B, Fernando A, Lopez JI, Hazell S, Chandra A, Chowdhury S, Rudman S, Soultati A, Stamp G, Fotiadis N, Pickering L, Au L, Spain L, Lynch J, Stares M, Teague J, Maura F, Wedge DC, Horswell S, Chambers T, Litchfield K, Xu H, Stewart A, Elaidi R, Oudard S, McGranahan N, Csabai I, Gore M, Futreal PA, Larkin J, Lynch AG, Szallasi Z, Swanton C, Campbell PJ; TRACERx Renal Consortium.

Cell. 2018 Apr 19;173(3):611-623.e17. doi: 10.1016/j.cell.2018.02.020. Epub 2018 Apr 12.

6.

Biological and prognostic impact of APOBEC-induced mutations in the spectrum of plasma cell dyscrasias and multiple myeloma cell lines.

Maura F, Petljak M, Lionetti M, Cifola I, Liang W, Pinatel E, Alexandrov LB, Fullam A, Martincorena I, Dawson KJ, Angelopoulos N, Samur MK, Szalat R, Zamora J, Tarpey P, Davies H, Corradini P, Anderson KC, Minvielle S, Neri A, Avet-Loiseau H, Keats J, Campbell PJ, Munshi NC, Bolli N.

Leukemia. 2018 Apr;32(4):1044-1048. doi: 10.1038/leu.2017.345. Epub 2017 Dec 6. No abstract available.

7.

Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Brammeld JS, Petljak M, Martincorena I, Williams SP, Alonso LG, Dalmases A, Bellosillo B, Robles-Espinoza CD, Price S, Barthorpe S, Tarpey P, Alifrangis C, Bignell G, Vidal J, Young J, Stebbings L, Beal K, Stratton MR, Saez-Rodriguez J, Garnett M, Montagut C, Iorio F, McDermott U.

Genome Res. 2017 Apr;27(4):613-625. doi: 10.1101/gr.213546.116. Epub 2017 Feb 8.

8.

ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.

Raine KM, Van Loo P, Wedge DC, Jones D, Menzies A, Butler AP, Teague JW, Tarpey P, Nik-Zainal S, Campbell PJ.

Curr Protoc Bioinformatics. 2016 Dec 8;56:15.9.1-15.9.17. doi: 10.1002/cpbi.17.

9.

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.

Long P, May MM, James VM, Grannò S, Johnson JP, Tarpey P, Stevenson RE, Harvey K, Schwartz CE, Harvey RJ.

Front Mol Neurosci. 2016 Jan 20;8:83. doi: 10.3389/fnmol.2015.00083. eCollection 2015.

10.

VAGrENT: Variation Annotation Generator.

Menzies A, Teague JW, Butler AP, Davies H, Tarpey P, Nik-Zainal S, Campbell PJ.

Curr Protoc Bioinformatics. 2015 Dec 17;52:15.8.1-15.8.11. doi: 10.1002/0471250953.bi1508s52.

11.

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.

Raine KM, Hinton J, Butler AP, Teague JW, Davies H, Tarpey P, Nik-Zainal S, Campbell PJ.

Curr Protoc Bioinformatics. 2015 Dec 17;52:15.7.1-15.7.12. doi: 10.1002/0471250953.bi1507s52.

12.

ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH.

Hum Mol Genet. 2015 Sep 1;24(17):4848-61. doi: 10.1093/hmg/ddv208. Epub 2015 Jun 8.

13.

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Presneau N, Baumhoer D, Behjati S, Pillay N, Tarpey P, Campbell PJ, Jundt G, Hamoudi R, Wedge DC, Loo PV, Hassan AB, Khatri B, Ye H, Tirabosco R, Amary MF, Flanagan AM.

J Pathol Clin Res. 2015 Mar 16;1(2):113-23. doi: 10.1002/cjp2.13. eCollection 2015 Apr.

14.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M.

J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22.

PMID:
25612912
15.

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

Fernanda Amary M, Ye H, Berisha F, Khatri B, Forbes G, Lehovsky K, Frezza AM, Behjati S, Tarpey P, Pillay N, Campbell PJ, Tirabosco R, Presneau N, Strauss SJ, Flanagan AM.

Cancer Med. 2014 Aug;3(4):980-7. doi: 10.1002/cam4.268. Epub 2014 May 27.

16.

A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.

Behjati S, Maschietto M, Williams RD, Side L, Hubank M, West R, Pearson K, Sebire N, Tarpey P, Futreal A, Brooks T, Stratton MR, Anderson J.

PLoS One. 2014 May 8;9(5):e96531. doi: 10.1371/journal.pone.0096531. eCollection 2014.

17.

Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du MQ, Greaves M, Bowen D, Huntly BJP, Harrison CN, Cross NCP, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR.

N Engl J Med. 2013 Dec 19;369(25):2391-2405. doi: 10.1056/NEJMoa1312542. Epub 2013 Dec 10.

18.

The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models.

Yen J, White RM, Wedge DC, Van Loo P, de Ridder J, Capper A, Richardson J, Jones D, Raine K, Watson IR, Wu CJ, Cheng J, Martincorena I, Nik-Zainal S, Mudie L, Moreau Y, Marshall J, Ramakrishna M, Tarpey P, Shlien A, Whitmore I, Gamble S, Latimer C, Langdon E, Kaufman C, Dovey M, Taylor A, Menzies A, McLaren S, O'Meara S, Butler A, Teague J, Lister J, Chin L, Campbell P, Adams DJ, Zon LI, Patton EE, Stemple DL, Futreal PA.

Genome Biol. 2013;14(10):R113.

19.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Takano K, Liu D, Tarpey P, Gallant E, Lam A, Witham S, Alexov E, Chaubey A, Stevenson RE, Schwartz CE, Board PG, Dulhunty AF.

Hum Mol Genet. 2012 Oct 15;21(20):4497-507. Epub 2012 Jul 19.

20.

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Snape K, Ruark E, Tarpey P, Renwick A, Turnbull C, Seal S, Murray A, Hanks S, Douglas J, Stratton MR, Rahman N.

Breast Cancer Res Treat. 2012 Jul;134(1):429-33. doi: 10.1007/s10549-012-2057-x. Epub 2012 Apr 18.

Supplemental Content

Loading ...
Support Center