Found: 22

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  • A platform for oncogenomic reporting and interpretation.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28348-y
    By:
    • Reisle, Caralyn;
    • Williamson, Laura M.;
    • Pleasance, Erin;
    • Davies, Anna;
    • Pellegrini, Brayden;
    • Bleile, Dustin W.;
    • Mungall, Karen L.;
    • Chuah, Eric;
    • Jones, Martin R.;
    • Ma, Yussanne;
    • Lewis, Eleanor;
    • Beckie, Isaac;
    • Pham, David;
    • Matiello Pletz, Raphael;
    • Muhammadzadeh, Amir;
    • Pierce, Brandon M.;
    • Li, Jacky;
    • Stevenson, Ross;
    • Wong, Hansen;
    • Bailey, Lance
    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

  • 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

  • A somatic reference standard for cancer genome sequencing.

    Published in:
    Scientific Reports, 2016, p. 24607, doi. 10.1038/srep24607
    By:
    • Craig, David W.;
    • Nasser, Sara;
    • Corbett, Richard;
    • Chan, Simon K.;
    • Murray, Lisa;
    • Legendre, Christophe;
    • Tembe, Waibhav;
    • Adkins, Jonathan;
    • Kim, Nancy;
    • Wong, Shukmei;
    • Baker, Angela;
    • Enriquez, Daniel;
    • Pond, Stephanie;
    • Pleasance, Erin;
    • Mungall, Andrew J.;
    • Moore, Richard A.;
    • McDaniel, Timothy;
    • Ma, Yussanne;
    • Jones, Steven J. M.;
    • Marra, Marco A.
    Publication type:
    Article

  • Personalized Oncogenomics: Clinical Experience with Malignant Peritoneal Mesothelioma Using Whole Genome Sequencing.

    Published in:
    PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119689
    By:
    • Sheffield, Brandon S.;
    • Tinker, Anna V.;
    • Shen, Yaoqing;
    • Hwang, Harry;
    • Li-Chang, Hector H.;
    • Pleasance, Erin;
    • Ch’ng, Carolyn;
    • Lum, Amy;
    • Lorette, Julie;
    • McConnell, Yarrow J.;
    • Sun, Sophie;
    • Jones, Steven J. M.;
    • Gown, Allen M.;
    • Huntsman, David G.;
    • Schaeffer, David F.;
    • Churg, Andrew;
    • Yip, Stephen;
    • Laskin, Janessa;
    • Marra, Marco A.
    Publication type:
    Article

  • TMBur: a distributable tumor mutation burden approach for whole genome sequencing.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01348-z
    By:
    • Titmuss, Emma;
    • Corbett, Richard D.;
    • Davidson, Scott;
    • Abbasi, Sanna;
    • Williamson, Laura M.;
    • Pleasance, Erin D.;
    • Shlien, Adam;
    • Renouf, Daniel J.;
    • Jones, Steven J. M.;
    • Laskin, Janessa;
    • Marra, Marco A.
    Publication type:
    Article

  • Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.

    Published in:
    JNCI Cancer Spectrum, 2020, v. 4, n. 5, p. 1, doi. 10.1093/jncics/pkaa045
    By:
    • Dixon, Katherine;
    • Young, Sean;
    • Shen, Yaoqing;
    • Thibodeau, My Linh;
    • Fok, Alexandra;
    • Pleasance, Erin;
    • Zhao, Eric;
    • Jones, Martin;
    • Aubert, Geraldine;
    • Armstrong, Linlea;
    • Virani, Alice;
    • Regier, Dean;
    • Gelmon, Karen;
    • Renouf, Dan;
    • Chia, Stephen;
    • Bosdet, Ian;
    • Rassekh, S Rod;
    • Deyell, Rebecca J;
    • Yip, Stephen;
    • Fisic, Ana
    Publication type:
    Article

  • Comprehensive Immune Profiling Unveils a Subset of Leiomyosarcoma with "Hot" Tumor Immune Microenvironment.

    Published in:
    Cancers, 2023, v. 15, n. 14, p. 3705, doi. 10.3390/cancers15143705
    By:
    • Feng, Xiaolan;
    • Tonon, Laurie;
    • Li, Haocheng;
    • Darbo, Elodie;
    • Pleasance, Erin;
    • Macagno, Nicolas;
    • Dufresne, Armelle;
    • Brahmi, Mehdi;
    • Bollard, Julien;
    • Ducimetière, Francoise;
    • Karanian, Marie;
    • Meurgey, Alexandra;
    • Pérot, Gaëlle;
    • Valentin, Thibaud;
    • Chibon, Frédéric;
    • Blay, Jean-Yves
    Publication type:
    Article

  • The patterns and dynamics of genomic instability in metastatic pancreatic cancer.

    Published in:
    Nature, 2010, v. 467, n. 7319, p. 1109, doi. 10.1038/nature09460
    By:
    • Campbell, Peter J.;
    • Yachida, Shinichi;
    • Mudie, Laura J.;
    • Stephens, Philip J.;
    • Pleasance, Erin D.;
    • Stebbings, Lucy A.;
    • Morsberger, Laura A.;
    • Latimer, Calli;
    • McLaren, Stuart;
    • Lin, Meng-Lay;
    • McBride, David J.;
    • Varela, Ignacio;
    • Nik-Zainal, Serena A.;
    • Leroy, Catherine;
    • Jia, Mingming;
    • Menzies, Andrew;
    • Butler, Adam P.;
    • Teague, Jon W.;
    • Griffin, Constance A.;
    • Burton, John
    Publication type:
    Article

  • 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

  • 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

  • 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

  • Clinical and cost outcomes following genomics‐informed treatment for advanced cancers.

    Published in:
    Cancer Medicine, 2021, v. 10, n. 15, p. 5131, doi. 10.1002/cam4.4076
    By:
    • Weymann, Deirdre;
    • Pollard, Samantha;
    • Chan, Brandon;
    • Titmuss, Emma;
    • Bohm, Alexandra;
    • Laskin, Janessa;
    • Jones, Steven J. M.;
    • Pleasance, Erin;
    • Nelson, Jessica;
    • Fok, Alexandra;
    • Lim, Howard;
    • Karsan, Aly;
    • Renouf, Daniel J.;
    • Schrader, Kasmintan A.;
    • Sun, Sophie;
    • Yip, Stephen;
    • Schaeffer, David F.;
    • Marra, Marco A.;
    • Regier, Dean A.
    Publication type:
    Article

  • NTRK2 Fusion driven pediatric glioblastoma: Identification of oncogenic Drivers via integrative Genome and transcriptome profiling.

    Published in:
    Clinical Case Reports, 2021, v. 9, n. 3, p. 1472, doi. 10.1002/ccr3.3804
    By:
    • Britton, Heidi M.;
    • Levine, Adrian B.;
    • Shen, Yaoqing;
    • Mungall, Karen;
    • Serrano, Jonathan;
    • Snuderl, Matija;
    • Pleasance, Erin;
    • Jones, Steven J. M.;
    • Laskin, Janessa;
    • Marra, Marco A.;
    • Rassekh, Shahrad R.;
    • Deyell, Rebecca;
    • Yip, Stephen;
    • Cheng, Sylvia;
    • Dunham, Chris
    Publication type:
    Article

  • Homologous recombination deficiency signatures in gastrointestinal and thoracic cancers correlate with platinum therapy duration.

    Published in:
    NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00368-x
    By:
    • Tsang, Erica S.;
    • Csizmok, Veronika;
    • Williamson, Laura M.;
    • Pleasance, Erin;
    • Topham, James T.;
    • Karasinska, Joanna M.;
    • Titmuss, Emma;
    • Schrader, Intan;
    • Yip, Stephen;
    • Tessier-Cloutier, Basile;
    • Mungall, Karen;
    • Ng, Tony;
    • Sun, Sophie;
    • Lim, Howard J.;
    • Loree, Jonathan M.;
    • Laskin, Janessa;
    • Marra, Marco A.;
    • Jones, Steven J. M.;
    • Schaeffer, David F.;
    • Renouf, Daniel J.
    Publication type:
    Article

  • Clinical response to nivolumab in an INI1-deficient pediatric chordoma correlates with immunogenic recognition of brachyury.

    Published in:
    NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00238-4
    By:
    • Williamson, Laura M.;
    • Rive, Craig M.;
    • Di Francesco, Daniela;
    • Titmuss, Emma;
    • Chun, Hye-Jung E.;
    • Brown, Scott D.;
    • Milne, Katy;
    • Pleasance, Erin;
    • Lee, Anna F.;
    • Yip, Stephen;
    • Rosenbaum, Daniel G.;
    • Hasselblatt, Martin;
    • Johann, Pascal D.;
    • Kool, Marcel;
    • Harvey, Melissa;
    • Dix, David;
    • Renouf, Daniel J.;
    • Holt, Robert A.;
    • Nelson, Brad H.;
    • Hirst, Martin
    Publication type:
    Article

  • The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

    Published in:
    Journal of Pathology: Clinical Research, 2022, v. 8, n. 4, p. 395, doi. 10.1002/cjp2.265
    By:
    • Tessier‐Cloutier, Basile;
    • Grewal, Jasleen K;
    • Jones, Martin R;
    • Pleasance, Erin;
    • Shen, Yaoqing;
    • Cai, Ellen;
    • Dunham, Chris;
    • Hoang, Lynn;
    • Horst, Basil;
    • Huntsman, David G;
    • Ionescu, Diana;
    • Karnezis, Anthony N;
    • Lee, Anna F;
    • Lee, Cheng Han;
    • Lee, Tae Hoon;
    • Twa, David DW;
    • Mungall, Andrew J;
    • Mungall, Karen;
    • Naso, Julia R;
    • Ng, Tony
    Publication type:
    Article

  • A p53 transcriptional signature in primary and metastatic cancers derived using machine learning.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.987238
    By:
    • Keshavarz-Rahaghi, Faeze;
    • Pleasance, Erin;
    • Kolisnik, Tyler;
    • Jones, Steven J. M.
    Publication type:
    Article

  • Diagnostic Value of Next-Generation Sequencing in an Unusual Sphenoid Tumor.

    Published in:
    Oncologist, 2014, v. 19, n. 6, p. 623, doi. 10.1634/theoncologist.2013-0390
    By:
    • Jamshidi, Farzad;
    • Pleasance, Erin;
    • Li, Yvonne;
    • Shen, Yaoqing;
    • Kasaian, Katayoon;
    • Corbett, Richard;
    • Eirew, Peter;
    • Lum, Amy;
    • Pandoh, Pawan;
    • Zhao, Yongjun;
    • Schein, Jacqueline E.;
    • Moore, Richard A.;
    • Rassekh, Rod;
    • Huntsman, David G.;
    • Knowling, Meg;
    • Lim, Howard;
    • Renouf, Daniel J.;
    • Jones, Steven J.M.;
    • Marra, Marco A.;
    • Nielsen, Torsten O.
    Publication type:
    Article

  • Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

    Published in:
    Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48363-5
    By:
    • Deyell, Rebecca J.;
    • Shen, Yaoqing;
    • Titmuss, Emma;
    • Dixon, Katherine;
    • Williamson, Laura M.;
    • Pleasance, Erin;
    • Nelson, Jessica M. T.;
    • Abbasi, Sanna;
    • Krzywinski, Martin;
    • Armstrong, Linlea;
    • Bonakdar, Melika;
    • Ch'ng, Carolyn;
    • Chuah, Eric;
    • Dunham, Chris;
    • Fok, Alexandra;
    • Jones, Martin;
    • Lee, Anna F.;
    • Ma, Yussanne;
    • Moore, Richard A.;
    • Mungall, Andrew J.
    Publication type:
    Article

  • Investigation of PD-L1 Biomarker Testing Methods for PD-1 Axis Inhibition in Non-squamous Non–small Cell Lung Cancer.

    Published in:
    Journal of Histochemistry & Cytochemistry, 2016, v. 64, n. 10, p. 587, doi. 10.1369/0022155416665338
    By:
    • Sheffield, Brandon S.;
    • Fulton, Regan;
    • Kalloger, Steve E.;
    • Milne, Katy;
    • Geller, Georgia;
    • Jones, Martin;
    • Jacquemont, Celine;
    • Zachara, Susanna;
    • Zhao, Eric;
    • Pleasance, Erin;
    • Laskin, Janessa;
    • Jones, Steven J.M.;
    • Marra, Marco A.;
    • Yip, Stephen;
    • Nelson, Brad H.;
    • Gown, Allen M.;
    • Ho, Cheryl;
    • Ionescu, Diana N.
    Publication type:
    Article

  • Exploration of Germline Correlates and Risk of Immune-Related Adverse Events in Advanced Cancer Patients Treated with Immune Checkpoint Inhibitors.

    Published in:
    Current Oncology, 2024, v. 31, n. 4, p. 1865, doi. 10.3390/curroncol31040140
    By:
    • Titmuss, Emma;
    • Yu, Irene S.;
    • Pleasance, Erin D.;
    • Williamson, Laura M.;
    • Mungall, Karen;
    • Mungall, Andrew J.;
    • Renouf, Daniel J.;
    • Moore, Richard;
    • Jones, Steven J. M.;
    • Marra, Marco A.;
    • Laskin, Janessa J.;
    • Savage, Kerry J.
    Publication type:
    Article