Works matching AU Edkins, Sarah

Results: 31
    1

    Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers.

    Published in:
    Nature, 2007, v. 447, n. 7147, p. 966, doi. 10.1038/nature05886
    By:
    • Maser, Richard S.;
    • Choudhury, Bhudipa;
    • Campbell, Peter J.;
    • Bin Feng;
    • Kwok-Kin Wong;
    • Protopopov, Alexei;
    • O’Neil, Jennifer;
    • Gutierrez, Alejandro;
    • Ivanova, Elena;
    • Perna, Ilana;
    • Lin, Eric;
    • Mani, Vidya;
    • Shan Jiang;
    • McNamara, Kate;
    • Zaghlul, Sara;
    • Edkins, Sarah;
    • Stevens, Claire;
    • Brennan, Cameron;
    • Martin, Eric S.;
    • Wiedemeyer, Ruprecht
    Publication type:
    Article
    2

    Patterns of somatic mutation in human cancer genomes.

    Published in:
    Nature, 2007, v. 446, n. 7132, p. 153, doi. 10.1038/nature05610
    By:
    • Greenman, Christopher;
    • Stephens, Philip;
    • Smith, Raffaella;
    • Dalgliesh, Gillian L.;
    • Hunter, Christopher;
    • Bignell, Graham;
    • Davies, Helen;
    • Teague, Jon;
    • Butler, Adam;
    • Stevens, Claire;
    • Edkins, Sarah;
    • O’Meara, Sarah;
    • Vastrik, Imre;
    • Schmidt, Esther E.;
    • Avis, Tim;
    • Barthorpe, Syd;
    • Bhamra, Gurpreet;
    • Buck, Gemma;
    • Choudhury, Bhudipa;
    • Clements, Jody
    Publication type:
    Article
    3

    Lung cancer: Intragenic ERBB2 kinase mutations in tumours.

    Published in:
    Nature, 2004, v. 431, n. 7008, p. 525, doi. 10.1038/431525b
    By:
    • Stephens, Philip;
    • Hunter, Chris;
    • Bignell, Graham;
    • Edkins, Sarah;
    • Davies, Helen;
    • Teague, Jon;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Smith, Raffaella;
    • Parker, Adrian;
    • Barthorpe, Andy;
    • Blow, Matthew;
    • Brackenbury, Lisa;
    • Butler, Adam;
    • Clarke, Oliver;
    • Cole, Jennifer;
    • Dicks, Ed;
    • Dike, Angus;
    • Drozd, Anja;
    • Edwards, Ken
    Publication type:
    Article
    4
    5
    6

    Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

    Published in:
    Nature Genetics, 2012, v. 44, n. 10, p. 1131, doi. 10.1038/ng.2408
    By:
    • Su, Zhan;
    • Gay, Laura J;
    • Strange, Amy;
    • Palles, Claire;
    • Band, Gavin;
    • Whiteman, David C;
    • Lescai, Francesco;
    • Langford, Cordelia;
    • Nanji, Manoj;
    • Edkins, Sarah;
    • van der Winkel, Anouk;
    • Levine, David;
    • Sasieni, Peter;
    • Bellenguez, Céline;
    • Howarth, Kimberley;
    • Freeman, Colin;
    • Trudgill, Nigel;
    • Tucker, Art T;
    • Pirinen, Matti;
    • Peppelenbosch, Maikel P
    Publication type:
    Article
    7

    Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

    Published in:
    2012
    By:
    • Hunt, Karen A;
    • Smyth, Deborah J;
    • Balschun, Tobias;
    • Ban, Maria;
    • Mistry, Vanisha;
    • Ahmad, Tariq;
    • Anand, Vidya;
    • Barrett, Jeffrey C;
    • Bhaw-Rosun, Leena;
    • Bockett, Nicholas A;
    • Brand, Oliver J;
    • Brouwer, Elisabeth;
    • Concannon, Patrick;
    • Cooper, Jason D;
    • Dias, Kerith-Rae M;
    • van Diemen, Cleo C;
    • Dubois, Patrick C;
    • Edkins, Sarah;
    • Fölster-Holst, Regina;
    • Fransen, Karin
    Publication type:
    Letter
    8

    Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

    Published in:
    Nature Genetics, 2011, v. 43, n. 12, p. 1193, doi. 10.1038/ng.998
    By:
    • Trynka, Gosia;
    • Hunt, Karen A;
    • Bockett, Nicholas A;
    • Romanos, Jihane;
    • Mistry, Vanisha;
    • Szperl, Agata;
    • Bakker, Sjoerd F;
    • Bardella, Maria Teresa;
    • Bhaw-Rosun, Leena;
    • Castillejo, Gemma;
    • de la Concha, Emilio G;
    • de Almeida, Rodrigo Coutinho;
    • Dias, Kerith-Rae M;
    • van Diemen, Cleo C;
    • Dubois, Patrick C A;
    • Duerr, Richard H;
    • Edkins, Sarah;
    • Franke, Lude;
    • Fransen, Karin;
    • Gutierrez, Javier
    Publication type:
    Article
    9

    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

    Published in:
    Nature Genetics, 2010, v. 42, n. 11, p. 985, doi. 10.1038/ng.694
    By:
    • Strange, Amy;
    • Capon, Francesca;
    • Spencer, Chris C. A.;
    • Knight, Jo;
    • Weale, Michael E.;
    • Allen, Michael H.;
    • Barton, Anne;
    • Band, Gavin;
    • Bellenguez, Céline;
    • Bergboer, Judith G. M.;
    • Blackwell, Jenefer M.;
    • Bramon, Elvira;
    • Bumpstead, Suzannah J.;
    • Casas, Juan P.;
    • Cork, Michael J.;
    • Corvin, Aiden;
    • Deloukas, Panos;
    • Dilthey, Alexander;
    • Duncanson, Audrey;
    • Edkins, Sarah
    Publication type:
    Article
    10

    Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

    Published in:
    Nature Genetics, 2009, v. 41, n. 5, p. 521, doi. 10.1038/ng.349
    By:
    • van Haaften, Gijs;
    • Dalgliesh, Gillian L.;
    • Davies, Helen;
    • Chen, Lina;
    • Bignell, Graham;
    • Greenman, Chris;
    • Edkins, Sarah;
    • Hardy, Claire;
    • O'Meara, Sarah;
    • Teague, Jon;
    • Butler, Adam;
    • Hinton, Jonathan;
    • Latimer, Calli;
    • Andrews, Jenny;
    • Barthorpe, Syd;
    • Beare, Dave;
    • Buck, Gemma;
    • Campbell, Peter J.;
    • Cole, Jennifer;
    • Forbes, Simon
    Publication type:
    Article
    11

    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
    12

    Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing.

    Published in:
    Nature Genetics, 2008, v. 40, n. 6, p. 722, doi. 10.1038/ng.128
    By:
    • Campbell, Peter J.;
    • Stephens, Philip J.;
    • Pleasance, Erin D.;
    • O'Meara, Sarah;
    • Heng Li;
    • Santarius, Thomas;
    • Stebbings, Lucy A.;
    • Leroy, Catherine;
    • Edkins, Sarah;
    • Hardy, Claire;
    • Teague, Jon W.;
    • Menzies, Andrew;
    • Goodhead, Ian;
    • Turner, Daniel J.;
    • Clee, Christopher M.;
    • Quail, Michael A.;
    • Cox, Antony;
    • Brown, Clive;
    • Durbin, Richard;
    • Hurles, Matthew E.
    Publication type:
    Article
    13

    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
    14

    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
    15

    A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer.

    Published in:
    Nature Genetics, 2005, v. 37, n. 6, p. 590, doi. 10.1038/ng1571
    By:
    • Stephens, Philip;
    • Edkins, Sarah;
    • Davies, Helen;
    • Greenman, Chris;
    • Cox, Charles;
    • Hunter, Chris;
    • Bignell, Graham;
    • Teague, Jon;
    • Smith, Raffaella;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Parker, Adrian;
    • Tarpey, Patrick;
    • Avis, Tim;
    • Barthorpe, Andy;
    • Brackenbury, Lisa;
    • Buck, Gemma;
    • Butler, Adam;
    • Clements, Jody;
    • Cole, Jennifer
    Publication type:
    Article
    16

    Zeb1 modulates hematopoietic stem cell fates required for suppressing acute myeloid leukemia.

    Published in:
    2021
    By:
    • Almotiri, Alhomidi;
    • Alzahrani, Hamed;
    • Menendez-Gonzalez, Juan Bautista;
    • Abdelfattah, Ali;
    • Alotaibi, Badi;
    • Saleh, Lubaid;
    • Greene, Adelle;
    • Georgiou, Mia;
    • Gibbs, Alex;
    • Alsayari, Amani;
    • Taha, Sarab;
    • Thomas, Leigh-anne;
    • Shah, Dhruv;
    • Edkins, Sarah;
    • Giles, Peter;
    • Stemmler, Marc P.;
    • Brabletz, Simone;
    • Brabletz, Thomas;
    • Boyd, Ashleigh S.;
    • Siebzehnrubl, Florian A.
    Publication type:
    journal article
    17

    Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

    Published in:
    Nature Genetics, 2013, v. 45, n. 6, p. 664, doi. 10.1038/ng.2614
    By:
    • Hinks, Anne;
    • Cobb, Joanna;
    • Marion, Miranda C;
    • Prahalad, Sampath;
    • Sudman, Marc;
    • Bowes, John;
    • Martin, Paul;
    • Comeau, Mary E;
    • Sajuthi, Satria;
    • Andrews, Robert;
    • Brown, Milton;
    • Chen, Wei-Min;
    • Concannon, Patrick;
    • Deloukas, Panos;
    • Edkins, Sarah;
    • Eyre, Stephen;
    • Gaffney, Patrick M;
    • Guthery, Stephen L;
    • Guthridge, Joel M;
    • Hunt, Sarah E
    Publication type:
    Article
    18

    Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis.

    Published in:
    Nature Genetics, 2013, v. 45, n. 2, p. 208, doi. 10.1038/ng.2518
    By:
    • Fakiola, Michaela;
    • Strange, Amy;
    • Cordell, Heather J;
    • Miller, E Nancy;
    • Pirinen, Matti;
    • Su, Zhan;
    • Mishra, Anshuman;
    • Mehrotra, Sanjana;
    • Monteiro, Gloria R;
    • Band, Gavin;
    • Bellenguez, Céline;
    • Dronov, Serge;
    • Edkins, Sarah;
    • Freeman, Colin;
    • Giannoulatou, Eleni;
    • Gray, Emma;
    • Hunt, Sarah E;
    • Lacerda, Henio G;
    • Langford, Cordelia;
    • Pearson, Richard
    Publication type:
    Article
    19

    Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 23, p. 9145, doi. 10.3390/ijms21239145
    By:
    • Zhang, Lei;
    • Evans, Anna;
    • von Ruhland, Chris;
    • Draman, Mohd Shazli;
    • Edkins, Sarah;
    • Vincent, Amy E.;
    • Berlinguer-Palmini, Rolando;
    • Rees, D. Aled;
    • Haridas, Anjana S;
    • Morris, Dan;
    • Tee, Andrew R.;
    • Ludgate, Marian;
    • Turnbull, Doug M.;
    • Karpe, Fredrik;
    • Dayan, Colin M.
    Publication type:
    Article
    20
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    23

    GLO1-A novel amplified gene in human cancer.

    Published in:
    Genes, Chromosomes & Cancer, 2010, v. 49, n. 8, p. 711, doi. 10.1002/gcc.20784
    By:
    • Santarius, Thomas;
    • Bignell, Graham R.;
    • Greenman, Chris D.;
    • Widaa, Sara;
    • Chen, Lina;
    • Mahoney, Claire L.;
    • Butler, Adam;
    • Edkins, Sarah;
    • Waris, Sahar;
    • Thornalley, Paul J.;
    • Futreal, P. Andrew;
    • Stratton, Michael R.
    Publication type:
    Article
    24

    Mutations of the BRAF gene in human cancer.

    Published in:
    Nature, 2002, v. 417, n. 6892, p. 949, doi. 10.1038/nature00766
    By:
    • Davies, Helen;
    • Bignell, Graham R.;
    • Cox, Charles;
    • Stephens, Philip;
    • Edkins, Sarah;
    • Clegg, Sheila;
    • Teague, Jon;
    • Woffendin, Hayley;
    • Garnett, Mathew J.;
    • Bottomley, William;
    • Davis, Neil;
    • Dicks, Ed;
    • Ewing, Rebecca;
    • Floyd, Yvonne;
    • Gray, Kristian;
    • Hall, Sarah;
    • Hawes, Rachel;
    • Hughes, Jaime;
    • Kosmidou, Vivian
    Publication type:
    Article
    25
    26

    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

    Published in:
    Nature, 2011, v. 476, n. 7359, p. 214, doi. 10.1038/nature10251
    By:
    • Sawcer, Stephen;
    • Hellenthal, Garrett;
    • Pirinen, Matti;
    • Spencer, Chris C. A.;
    • Patsopoulos, Nikolaos A.;
    • Moutsianas, Loukas;
    • Dilthey, Alexander;
    • Su, Zhan;
    • Freeman, Colin;
    • Hunt, Sarah E.;
    • Edkins, Sarah;
    • Gray, Emma;
    • Booth, David R.;
    • Potter, Simon C.;
    • Goris, An;
    • Band, Gavin;
    • Bang Oturai, Annette;
    • Strange, Amy;
    • Saarela, Janna;
    • Bellenguez, Céline
    Publication type:
    Article
    27

    Signatures of mutation and selection in the cancer genome.

    Published in:
    Nature, 2010, v. 463, n. 7283, p. 893, doi. 10.1038/nature08768
    By:
    • Bignell, Graham R.;
    • Greenman, Chris D.;
    • Davies, Helen;
    • Butler, Adam P.;
    • Edkins, Sarah;
    • Andrews, Jenny M.;
    • Buck, Gemma;
    • Chen, Lina;
    • Beare, David;
    • Latimer, Calli;
    • Widaa, Sara;
    • Hinton, Jonathon;
    • Fahey, Ciara;
    • Fu, Beiyuan;
    • Swamy, Sajani;
    • Dalgliesh, Gillian L.;
    • Teh, Bin T.;
    • Deloukas, Panos;
    • Yang, Fengtang;
    • Campbell, Peter J.
    Publication type:
    Article
    28

    Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

    Published in:
    Nature, 2010, v. 463, n. 7279, p. 360, doi. 10.1038/nature08672
    By:
    • Dalgliesh, Gillian L.;
    • Furge, Kyle;
    • Greenman, Chris;
    • Chen, Lina;
    • Bignell, Graham;
    • Butler, Adam;
    • Davies, Helen;
    • Edkins, Sarah;
    • Hardy, Claire;
    • Latimer, Calli;
    • Teague, Jon;
    • Andrews, Jenny;
    • Barthorpe, Syd;
    • Beare, Dave;
    • Buck, Gemma;
    • Campbell, Peter J.;
    • Forbes, Simon;
    • Mingming Jia;
    • Jones, David;
    • Knott, Henry
    Publication type:
    Article
    29

    A small-cell lung cancer genome with complex signatures of tobacco exposure.

    Published in:
    Nature, 2010, v. 463, n. 7278, p. 184, doi. 10.1038/nature08629
    By:
    • Pleasance, Erin D.;
    • Cheetham, R. Keira;
    • Stephens, Philip J.;
    • McBride, David J.;
    • Humphray, Sean J.;
    • Greenman, Chris D.;
    • Varela, Ignacio;
    • Meng-Lay Lin;
    • Ordóñez, Gonzalo R.;
    • Bignell, Graham R.;
    • Kai Ye;
    • Alipaz, Julie;
    • Bauer, Markus J.;
    • Beare, David;
    • Butler, Adam;
    • Carter, Richard J.;
    • Chen, Lina;
    • Cox, Anthony J.;
    • Edkins, Sarah;
    • Kokko-Gonzales, Paula I.
    Publication type:
    Article
    30

    A comprehensive catalogue of somatic mutations from a human cancer genome.

    Published in:
    Nature, 2010, v. 463, n. 7278, p. 191, doi. 10.1038/nature08658
    By:
    • Pleasance, Erin D.;
    • Cheetham, R. Keira;
    • Stephens, Philip J.;
    • McBride, David J.;
    • Humphray, Sean J.;
    • Greenman, Chris D.;
    • Varela, Ignacio;
    • Lin, Meng-Lay;
    • Ordóñez, Gonzalo R.;
    • Bignell, Graham R.;
    • Ye, Kai;
    • Alipaz, Julie;
    • Bauer, Markus J.;
    • Beare, David;
    • Butler, Adam;
    • Carter, Richard J.;
    • Chen, Lina;
    • Cox, Anthony J.;
    • Edkins, Sarah;
    • Kokko-Gonzales, Paula I.
    Publication type:
    Article
    31

    Complex landscapes of somatic rearrangement in human breast cancer genomes.

    Published in:
    Nature, 2009, v. 462, n. 7276, p. 1005, doi. 10.1038/nature08645
    By:
    • Stephens, Philip J.;
    • McBride, David J.;
    • Meng-Lay Lin;
    • Varela, Ignacio;
    • Pleasance, Erin D.;
    • Simpson, Jared T.;
    • Stebbings, Lucy A.;
    • Leroy, Catherine;
    • Edkins, Sarah;
    • Mudie, Laura J.;
    • Greenman, Chris D.;
    • Mingming Jia;
    • Latimer, Calli;
    • Teague, Jon W.;
    • King Wai Lau;
    • Burton, John;
    • Quail, Michael A.;
    • Swerdlow, Harold;
    • Churcher, Carol;
    • Natrajan, Rachael
    Publication type:
    Article