Found: 27

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  • Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

    Published in:
    Cell Death & Disease, 2018, v. 9, n. 9, p. 1, doi. 10.1038/s41419-018-0934-x
    By:
    • Myint, Ni Ni Moe;
    • Verma, Ajay M.;
    • Fernandez-Garcia, Daniel;
    • Sarmah, Panchali;
    • Tarpey, Patrick S.;
    • Al-Aqbi, Saif Sattar;
    • Cai, Hong;
    • Trigg, Ricky;
    • West, Kevin;
    • Howells, Lynne M.;
    • Thomas, Anne;
    • Brown, Karen;
    • Guttery, David S.;
    • Singh, Baljit;
    • Pringle, Howard J.;
    • McDermott, Ultan;
    • Shaw, Jacqui A.;
    • Rufini, Alessandro
    Publication type:
    Article

  • Recurrent rearrangements of FOS and FOSB define osteoblastoma.

    Published in:
    Nature Communications, 2018, v. 9, p. 1, doi. 10.1038/s41467-018-04530-z
    By:
    • Fittall, Matthew W.;
    • Mifsud, William;
    • Pillay, Nischalan;
    • Hongtao Ye;
    • Strobl, Anna-Christina;
    • Verfaillie, Annelien;
    • Demeulemeester, Jonas;
    • Lei Zhang;
    • Berisha, Fitim;
    • Tarabichi, Maxime;
    • Young, Matthew D.;
    • Miranda, Elena;
    • Tarpey, Patrick S.;
    • Tirabosco, Roberto;
    • Amary, Fernanda;
    • Grigoriadis, Agamemnon E.;
    • Stratton, Michael R.;
    • Van Loo, Peter;
    • Antonescu, Cristina R.;
    • Campbell, Peter J.
    Publication type:
    Article

  • The driver landscape of sporadic chordoma.

    Published in:
    Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01026-0
    By:
    • Tarpey, Patrick S.;
    • Behjati, Sam;
    • Young, Matthew D.;
    • Martincorena, Inigo;
    • Alexandrov, Ludmil B.;
    • Farndon, Sarah J.;
    • Guzzo, Charlotte;
    • Hardy, Claire;
    • Latimer, Calli;
    • Butler, Adam P.;
    • Teague, Jon W.;
    • Shlien, Adam;
    • Futreal, P. Andrew;
    • Shah, Sohrab;
    • Bashashati, Ali;
    • Jamshidi, Farzad;
    • Nielsen, Torsten O.;
    • Huntsman, David;
    • Baumhoer, Daniel;
    • Brandner, Sebastian
    Publication type:
    Article

  • Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

    Published in:
    Nature Communications, 2017, v. 8, n. 6, p. 15936, doi. 10.1038/ncomms15936
    By:
    • Behjati, Sam;
    • Tarpey, Patrick S.;
    • Haase, Kerstin;
    • Ye, Hongtao;
    • Young, Matthew D.;
    • Alexandrov, Ludmil B.;
    • Farndon, Sarah J.;
    • Collord, Grace;
    • Wedge, David C.;
    • Martincorena, Inigo;
    • Cooke, Susanna L.;
    • Davies, Helen;
    • Mifsud, William;
    • Lidgren, Mathias;
    • Martin, Sancha;
    • Latimer, Calli;
    • Maddison, Mark;
    • Butler, Adam P.;
    • Teague, Jon W.;
    • Pillay, Nischalan
    Publication type:
    Article

  • Mutational signatures of ionizing radiation in second malignancies.

    Published in:
    Nature Communications, 2016, v. 7, n. 9, p. 12605, doi. 10.1038/ncomms12605
    By:
    • Behjati, Sam;
    • Gundem, Gunes;
    • Wedge, David C.;
    • Roberts, Nicola D.;
    • Tarpey, Patrick S.;
    • Cooke, Susanna L.;
    • Van Loo, Peter;
    • Alexandrov, Ludmil B.;
    • Ramakrishna, Manasa;
    • Davies, Helen;
    • Nik-Zainal, Serena;
    • Hardy, Claire;
    • Latimer, Calli;
    • Raine, Keiran M.;
    • Stebbings, Lucy;
    • Menzies, Andy;
    • Jones, David;
    • Shepherd, Rebecca;
    • Butler, Adam P.;
    • Teague, Jon W.
    Publication type:
    Article

  • Genome sequencing of normal cells reveals developmental lineages and mutational processes.

    Published in:
    Nature, 2014, v. 513, n. 7518, p. 422, doi. 10.1038/nature13448
    By:
    • Behjati, Sam;
    • Huch, Meritxell;
    • van Boxtel, Ruben;
    • Karthaus, Wouter;
    • Wedge, David C.;
    • Martincorena, Iñigo;
    • Petljak, Mia;
    • Alexandrov, Ludmil B.;
    • Gundem, Gunes;
    • Tarpey, Patrick S.;
    • Roerink, Sophie;
    • Maddison, Mark;
    • Mudie, Laura;
    • Robinson, Ben;
    • Campbell, Peter;
    • Stratton, Michael R.;
    • Tamuri, Asif U.;
    • Goldman, Nick;
    • Blokker, Joyce;
    • van de Wetering, Marc
    Publication type:
    Article

  • Processed pseudogenes acquired somatically during cancer development.

    Published in:
    Nature Communications, 2014, v. 5, n. 4, p. 3644, doi. 10.1038/ncomms4644
    By:
    • Cooke, Susanna L.;
    • Shlien, Adam;
    • Marshall, John;
    • Pipinikas, Christodoulos P.;
    • Martincorena, Inigo;
    • Tubio, Jose M.C.;
    • Li, Yilong;
    • Menzies, Andrew;
    • Mudie, Laura;
    • Ramakrishna, Manasa;
    • Yates, Lucy;
    • Davies, Helen;
    • Bolli, Niccolo;
    • Bignell, Graham R.;
    • Tarpey, Patrick S.;
    • Behjati, Sam;
    • Nik-Zainal, Serena;
    • Papaemmanuil, Elli;
    • Teixeira, Vitor H.;
    • Raine, Keiran
    Publication type:
    Article

  • Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

    Published in:
    Nature Genetics, 2014, v. 46, n. 4, p. 376, doi. 10.1038/ng.2921
    By:
    • Behjati, Sam;
    • Tarpey, Patrick S;
    • Sheldon, Helen;
    • Martincorena, Inigo;
    • Van Loo, Peter;
    • Gundem, Gunes;
    • Wedge, David C;
    • Ramakrishna, Manasa;
    • Cooke, Susanna L;
    • Pillay, Nischalan;
    • Vollan, Hans Kristian M;
    • Papaemmanuil, Elli;
    • Koss, Hans;
    • Bunney, Tom D;
    • Hardy, Claire;
    • Joseph, Olivia R;
    • Martin, Sancha;
    • Mudie, Laura;
    • Butler, Adam;
    • Teague, Jon W
    Publication type:
    Article

  • Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

    Published in:
    Nature Genetics, 2014, v. 46, n. 3, p. 316, doi. 10.1038/ng0314-316
    By:
    • Behjati, Sam;
    • Tarpey, Patrick S;
    • Presneau, Nadège;
    • Scheipl, Susanne;
    • Pillay, Nischalan;
    • Van Loo, Peter;
    • Wedge, David C;
    • Cooke, Susanna L;
    • Gundem, Gunes;
    • Davies, Helen;
    • Nik-Zainal, Serena;
    • Martin, Sancha;
    • McLaren, Stuart;
    • Goodie, Victoria;
    • Robinson, Ben;
    • Butler, Adam;
    • Teague, Jon W;
    • Halai, Dina;
    • Khatri, Bhavisha;
    • Myklebost, Ola
    Publication type:
    Article

  • Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

    Published in:
    Nature Genetics, 2013, v. 45, n. 12, p. 1479, doi. 10.1038/ng.2814
    By:
    • Behjati, Sam;
    • Tarpey, Patrick S;
    • Presneau, Nadège;
    • Scheipl, Susanne;
    • Pillay, Nischalan;
    • Van Loo, Peter;
    • Wedge, David C;
    • Cooke, Susanna L;
    • Gundem, Gunes;
    • Davies, Helen;
    • Nik-Zainal, Serena;
    • Martin, Sancha;
    • McLaren, Stuart;
    • Goodie, Victoria;
    • Robinson, Ben;
    • Butler, Adam;
    • Teague, Jon W;
    • Halai, Dina;
    • Khatri, Bhavisha;
    • Myklebost, Ola
    Publication type:
    Article

  • Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 923, doi. 10.1038/ng.2668
    By:
    • Tarpey, Patrick S;
    • Behjati, Sam;
    • Cooke, Susanna L;
    • Van Loo, Peter;
    • Wedge, David C;
    • Pillay, Nischalan;
    • Marshall, John;
    • O'Meara, Sarah;
    • Davies, Helen;
    • Nik-Zainal, Serena;
    • Beare, David;
    • Butler, Adam;
    • Gamble, John;
    • Hardy, Claire;
    • Hinton, Jonathon;
    • Jia, Ming Ming;
    • Jayakumar, Alagu;
    • Jones, David;
    • Latimer, Calli;
    • Maddison, Mark
    Publication type:
    Article

  • Whole exome sequencing of adenoid cystic carcinoma.

    Published in:
    2013
    By:
    • Stephens, Philip J;
    • Davies, Helen R;
    • Mitani, Yoshitsugu;
    • Van Loo, Peter;
    • Shlien, Adam;
    • Tarpey, Patrick S;
    • Papaemmanuil, Elli;
    • Cheverton, Angela;
    • Bignell, Graham R;
    • Butler, Adam P;
    • Gamble, John;
    • Gamble, Stephen;
    • Hardy, Claire;
    • Hinton, Jonathan;
    • Jia, Mingming;
    • Jayakumar, Alagu;
    • Jones, David;
    • Latimer, Calli;
    • McLaren, Stuart;
    • McBride, David J
    Publication type:
    journal article

  • Whole exome sequencing of adenoid cystic carcinoma.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 7, p. 2965, doi. 10.1172/JCI67201
    By:
    • Stephens, Philip J.;
    • Davies, Helen R.;
    • Mitani, Yoshitsugu;
    • Van Loo, Peter;
    • Shlien, Adam;
    • Tarpey, Patrick S.;
    • Papaemmanuil, Elli;
    • Cheverton, Angela;
    • Bignell, Graham R.;
    • Butler, Adam P.;
    • Gamble, John;
    • Gamble, Stephen;
    • Hardy, Claire;
    • Hinton, Jonathan;
    • Mingming Jia;
    • Jayakumar, Alagu;
    • Jones, David;
    • Latimer, Calli;
    • McLaren, Stuart;
    • McBride, David J.
    Publication type:
    Article

  • A common single-nucleotide variant in T is strongly associated with chordoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1185, doi. 10.1038/ng.2419
    By:
    • Pillay, Nischalan;
    • Plagnol, Vincent;
    • Tarpey, Patrick S;
    • Lobo, Samira B;
    • Presneau, Nadège;
    • Szuhai, Karoly;
    • Halai, Dina;
    • Berisha, Fitim;
    • Cannon, Stephen R;
    • Mead, Simon;
    • Kasperaviciute, Dalia;
    • Palmen, Jutta;
    • Talmud, Philippa J;
    • Kindblom, Lars-Gunnar;
    • Amary, M Fernanda;
    • Tirabosco, Roberto;
    • Flanagan, Adrienne M
    Publication type:
    Article

  • Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
    By:
    • Rujirabanjerd, Sinitdhorn;
    • Nelson, John;
    • Tarpey, Patrick S;
    • Hackett, Anna;
    • Edkins, Sarah;
    • Raymond, F Lucy;
    • Schwartz, Charles E;
    • Turner, Gillian;
    • Iwase, Shigeki;
    • Shi, Yang;
    • Futreal, P Andrew;
    • Stratton, Michael R;
    • Gecz, Jozef
    Publication type:
    Article

  • The landscape of cancer genes and mutational processes in breast cancer.

    Published in:
    Nature, 2012, v. 486, n. 7403, p. 400, doi. 10.1038/nature11017
    By:
    • Stephens, Philip J.;
    • Tarpey, Patrick S.;
    • Davies, Helen;
    • Van Loo, Peter;
    • Greenman, Chris;
    • Wedge, David C.;
    • Nik-Zainal, Serena;
    • Martin, Sancha;
    • Varela, Ignacio;
    • Bignell, Graham R.;
    • Yates, Lucy R.;
    • Papaemmanuil, Elli;
    • Beare, David;
    • Butler, Adam;
    • Cheverton, Angela;
    • Gamble, John;
    • Hinton, Jonathan;
    • Jia, Mingming;
    • Jayakumar, Alagu;
    • Jones, David
    Publication type:
    Article

  • Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 486, doi. 10.1038/ng.588
    By:
    • Shoubridge, Cheryl;
    • Tarpey, Patrick S.;
    • Abidi, Fatima;
    • Ramsden, Sarah L.;
    • Rujirabanjerd, Sinitdhorn;
    • Murphy, Jessica A.;
    • Boyle, Jackie;
    • Shaw, Marie;
    • Gardner, Alison;
    • Proos, Anne;
    • Puusepp, Helen;
    • Raymond, F. Lucy;
    • Schwartz, Charles E.;
    • Stevenson, Roger E.;
    • Turner, Gill;
    • Field, Michael;
    • Walikonis, Randall S.;
    • Harvey, Robert J.;
    • Hackett, Anna;
    • Futreal, P. Andrew
    Publication type:
    Article

  • CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
    By:
    • Hackett, Anna;
    • Tarpey, Patrick S.;
    • Licata, Andrea;
    • Cox, James;
    • Whibley, Annabel;
    • Boyle, Jackie;
    • Rogers, Carolyn;
    • Grigg, John;
    • Partington, Michael;
    • Stevenson, Roger E.;
    • Tolmie, John;
    • Yates, John R. W.;
    • Turner, Gillian;
    • Wilson, Meredith;
    • Futreal, Andrew P.;
    • Corbett, Mark;
    • Shaw, Marie;
    • Gecz, Jozef;
    • Raymond, F. Lucy;
    • Stratton, Michael R.
    Publication type:
    Article

  • Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

    Published in:
    2010
    By:
    • Hackett, Anna;
    • Tarpey, Patrick S;
    • Licata, Andrea;
    • Cox, James;
    • Whibley, Annabel;
    • Boyle, Jackie;
    • Rogers, Carolyn;
    • Grigg, John;
    • Partington, Michael;
    • Stevenson, Roger E;
    • Tolmie, John;
    • Yates, John R W;
    • Turner, Gillian;
    • Wilson, Meredith;
    • Futreal, Andrew P;
    • Corbett, Mark;
    • Shaw, Marie;
    • Gecz, Jozef;
    • Raymond, F Lucy;
    • Stratton, Michael R
    Publication type:
    Correction notice

  • Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175
    By:
    • Rujirabanjerd, Sinitdhorn;
    • Nelson, John;
    • Tarpey, Patrick S.;
    • Hackett, Anna;
    • Edkins, Sarah;
    • Raymond, F Lucy;
    • Schwartz, Charles E.;
    • Turner, Gillian;
    • Iwase, Shigeki;
    • Yang Shi;
    • Futreal, P. Andrew;
    • Stratton, Michael R.;
    • Gecz, Jozef
    Publication type:
    Article

  • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    Published in:
    Nature Genetics, 2009, v. 41, n. 5, p. 535, doi. 10.1038/ng.367
    By:
    • Tarpey, Patrick S.;
    • Smith, Raffaella;
    • Pleasance, Erin;
    • Whibley, Annabel;
    • Edkins, Sarah;
    • Hardy, Claire;
    • O'Meara, Sarah;
    • Latimer, Calli;
    • Dicks, Ed;
    • Menzies, Andrew;
    • Stephens, Phil;
    • Blow, Matt;
    • Greenman, Chris;
    • Yali Xue;
    • Tyler-Smith, Chris;
    • Thompson, Deborah;
    • Gray, Kristian;
    • Andrews, Jenny;
    • Barthorpe, Syd;
    • Buck, Gemma
    Publication type:
    Article

  • Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

    Published in:
    Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4
    By:
    • Santos, Lane J. Jaeckle;
    • Chao Xing;
    • Barnes, Robert B.;
    • Ades, Lesley C.;
    • Megarbane, Andre;
    • Vidal, Christopher;
    • Xuereb, Angela;
    • Tarpey, Patrick S.;
    • Smith, RaVaella;
    • Khazab, Mahmoud;
    • Shoubridge, Cheryl;
    • Partington, Michael;
    • Futreal, Andrew;
    • Stratton, Michael R.;
    • Gecz, Jozef;
    • Zinn, Andrew R.
    Publication type:
    Article

  • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

    Published in:
    Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149
    By:
    • Dibbens, Leanne M.;
    • Tarpey, Patrick S.;
    • Hynes, Kim;
    • Bayly, Marta A.;
    • Scheffer, Ingrid E.;
    • Smith, Raffaella;
    • Bomar, Jamee;
    • Sutton, Edwina;
    • Vandeleur, Lucianne;
    • Shoubridge, Cheryl;
    • Edkins, Sarah;
    • Turner, Samantha J.;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Tofts, Calli;
    • Barthorpe, Syd;
    • Buck, Gemma;
    • Cole, Jennifer;
    • Halliday, Kelly;
    • Jones, David
    Publication type:
    Article

  • Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

    Published in:
    Nature Genetics, 2007, v. 39, n. 9, p. 1127, doi. 10.1038/ng2100
    By:
    • Tarpey, Patrick S.;
    • Lucy Raymond, F.;
    • Nguyen, Lam S.;
    • Rodriguez, Jayson;
    • Hackett, Anna;
    • Vandeleur, Lucianne;
    • Smith, Raffaella;
    • Shoubridge, Cheryl;
    • Edkins, Sarah;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Tofts, Calli;
    • Barthorpe, Syd;
    • Buck, Gemma;
    • Cole, Jennifer;
    • Halliday, Kelly;
    • Hills, Katy;
    • Jones, David;
    • Mironenko, Tatiana;
    • Perry, Janet
    Publication type:
    Article

  • Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization.

    Published in:
    Genes, Chromosomes & Cancer, 2005, v. 44, n. 4, p. 384, doi. 10.1002/gcc.20252
    By:
    • Eleanor J. Davison;
    • Patrick S. Tarpey;
    • Heike Fiegler;
    • Ian P. M. Tomlinson;
    • Nigel P. Carter
    Publication type:
    Article

  • High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes.

    Published in:
    Genes, Chromosomes & Cancer, 2003, v. 37, n. 3, p. 282, doi. 10.1002/gcc.10215
    By:
    • Alistair G. Reid;
    • Patrick S. Tarpey;
    • Ellie P. Nacheva
    Publication type:
    Article

  • Epithelial phosphate transport in ruminants, mechanisms and regulation.

    Published in:
    1996
    By:
    • Shirazi-Beechey, Soraya P.;
    • Penny, Jeffery I.;
    • Dyer, Jane;
    • Wood, I. Stuart;
    • Tarpey, Patrick S.;
    • Scott, Dennis;
    • Buchan, William;
    • Shirazi-Beechey, S P;
    • Penny, J I;
    • Dyer, J;
    • Wood, I S;
    • Tarpey, P S;
    • Scott, D;
    • Buchan, W
    Publication type:
    journal article