Výsledky vyhledávání - Bernard J. Pope

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  1. 1
    A High-Plex PCR Approach for Massively Parallel Sequencing

    A High-Plex PCR Approach for Massively Parallel Sequencing Autor Tú Nguyen‐Dumont, Bernard J. Pope, Fleur Hammet, Melissa C. Southey, Daniel J. Park

    Vydáno 2013
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  2. 2
    Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

    Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics Autor Khalid Mahmood, Chol‐Hee Jung, Gayle K. Philip, Peter Georgeson, Jessica Chung, Bernard J. Pope, Daniel J. Park

    Vydáno 2017
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  3. 3
    SRST2: Rapid genomic surveillance for public health and hospital microbiology labs

    SRST2: Rapid genomic surveillance for public health and hospital microbiology labs Autor Michael Inouye, Harriet Dashnow, Lesley-Ann Raven, Mark B. Schultz, Bernard J. Pope, Takehiro Tomita, Justin Zobel, Kathryn E. Holt

    Vydáno 2014
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  4. 4
    A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade

    A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade Autor Maria D. Purice, Arpita Ray, Eva Jolanda Münzel, Bernard J. Pope, Daniel J. Park, Sean D. Speese, Mary A. Logan

    Vydáno 2017
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  5. 5
    Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

    Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1 Autor Daniel D. Buchanan, Jenna R. Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J. Pope, Mark A. Jenkins, John L. Hopper, Melissa C. Southey, Finlay Macrae, Ingrid Winship, Aung Ko Win

    Vydáno 2017
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  6. 6
    MYRF Is a Membrane-Associated Transcription Factor That Autoproteolytically Cleaves to Directly Activate Myelin Genes

    MYRF Is a Membrane-Associated Transcription Factor That Autoproteolytically Cleaves to Directly Activate Myelin Genes Autor Helena Bujalka, Matthias Koenning, Stacey Jackson, Victoria M. Perreau, Bernard J. Pope, Curtis M. Hay, Stanislaw Mitew, Andrew F. Hill, Quanlong Lü, Michael Wegner, Rajini Srinivasan, John Svaren, Melanie Willingham, Ben A. Barres, Ben Emery

    Vydáno 2013
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  7. 7
    Long-read assembly and comparative evidence-based reanalysis of <i>Cryptosporidium</i> genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions

    Long-read assembly and comparative evidence-based reanalysis of <i>Cryptosporidium</i> genome sequences reveal expanded transporter repertoire and duplication of entire chromosome... Autor Rodrigo P. Baptista, Yiran Li, Adam Sateriale, Mandy Sanders, Karen Brooks, Alan Tracey, Brendan R. E. Ansell, Aaron R. Jex, Garrett W. Cooper, Ethan D. Smith, R. Xiao, Jennifer E. Dumaine, Peter Georgeson, Bernard J. Pope, Matthew Berriman, Boris Striepen, James A. Cotton, Jessica C. Kissinger

    Vydáno 2021
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  8. 8
    Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression

    Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression Autor Edmund Lau, Patrick J. McCoy, Fairleigh Reeves, Ken Chow, Michael J. Clarkson, Edmond M. Kwan, Kate Packwood, Helen Northen, Miao He, Zoya Kingsbury, Stefano Mangiola, Michael Kerger, Marc A. Furrer, Helen Crowe, Anthony J. Costello, David J. McBride, Mark T. Ross, Bernard J. Pope, Christopher M. Hovens, Niall M. Corcoran

    Vydáno 2020
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  9. 9
    Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

    Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers Autor Peter Georgeson, Bernard J. Pope, Christophe Rosty, Mark Clendenning, Khalid Mahmood, Jihoon E. Joo, Romy Walker, Ryan Hutchinson, Susan Preston, Julia Como, Sharelle Joseland, Aung Ko Win, Finlay Macrae, John L. Hopper, Dmitri Mouradov, Peter Gibbs, Oliver M. Sieber, Dylan E. O’Sullivan, Darren R. Brenner, Steve Gallinger, Mark A. Jenkins, Ingrid Winship, Daniel D. Buchanan

    Vydáno 2021
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  10. 10
    Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

    Rare Mutations in XRCC2 Increase the Risk of Breast Cancer Autor Daniel J. Park, Fabienne Lesueur, Tú Nguyen‐Dumont, Maroulio Pertesi, FA Odefrey, Fleur Hammet, Susan L. Neuhausen, Esther M. John, Irene L. Andrulis, Mary Beth Terry, M. Daly, Saundra S. Buys, Florence Le Calvez‐Kelm, Andrew Lonie, Bernard J. Pope, Helen Tsimiklis, Catherine Voegele, Florentine Hilbers, Nicoline Hoogerbrugge, A. Barroso, Ana Osório, Graham G. Giles, Peter Devilee, Javier Benı́tez, John L. Hopper, Sean V. Tavtigian, David E. Goldgar, Melissa C. Southey

    Vydáno 2012
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  11. 11
    Adenomas from individuals with pathogenic biallelic variants in the<i>MUTYH</i>and<i>NTHL1</i>genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

    Adenomas from individuals with pathogenic biallelic variants in the<i>MUTYH</i>and<i>NTHL1</i>genes demonstrate base excision repair tumour mutational signature profiles similar to... Autor Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ana B. D. Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Giovana Tardin Torrezan, Christophe Rosty, Finlay Macrae, Ingrid Winship, Daniel D. Buchanan, Peter Georgeson

    Vydáno 2024
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  12. 12
    Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications

    Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorecta... Autor Romy Walker, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Julia Como, Susan Preston, Sharelle Joseland, Bernard J. Pope, Ana Beatriz Deleame Medeiros, Brenely V. Murillo, Nicholas Pachter, Kevin Sweet, Allan D. Spigelman, Alexandra Groves, Margaret Gleeson, Krzysztof Bernatowicz, Nicola Poplawski, Lesley Andrews, Emma Healey, Steven Gallinger, Robert C. Grant, Aung Ko Win, John L. Hopper, Mark A. Jenkins, Giovana Tardin Torrezan, Christophe Rosty, Finlay Macrae, Ingrid Winship, Daniel D. Buchanan, Peter Georgeson

    Vydáno 2025
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  13. 13
    Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

    Rare Mutations in <i>RINT1</i> Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers Autor Daniel J. Park, Kayoko Tao, Florence Le Calvez‐Kelm, Tú Nguyen‐Dumont, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L. Teo, Louise B. Thingholm, Erin L. Young, Catherine Voegele, Andrew Lonie, Bernard J. Pope, Terrell C. Roane, Russell Bell, Hao Hu, N.A. Shankaracharya, Chad Huff, Jonathan J. Ellis, Jun Li, Igor V. Makunin, Esther M. John, Irene L. Andrulis, Mary Beth Terry, Mary B. Daly, Saundra S. Buys, Carrie Snyder, Henry T. Lynch, Peter Devilee, Graham G. Giles, John L. Hopper, Bing Feng, Fabienne Lesueur, Sean V. Tavtigian, Melissa C. Southey, David E. Goldgar

    Vydáno 2014
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  14. 14
    Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

    Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures Autor Peter Georgeson, Tabitha A. Harrison, Bernard J. Pope, Syed Hassan Ejaz Zaidi, Conghui Qu, Robert S. Steinfelder, Yi Lin, Jihoon E. Joo, Khalid Mahmood, Mark Clendenning, Romy Walker, Efrat L. Amitay, Sonja I. Berndt, Hermann Brenner, Peter T. Campbell, Yin Cao, Andrew T. Chan, Jenny Chang‐Claude, Kimberly F. Doheny, David A. Drew, Jane C. Figueiredo, Amy J. French, Steven Gallinger, Marios Giannakis, Graham G. Giles, Andrea Gsur, Marc J. Gunter, Michael Hoffmeister, Li Hsu, Wen‐Yi Huang, Paul J. Limburg, JoAnn E. Manson, Vı́ctor Moreno, Rami Nassir, Jonathan A. Nowak, Mireia Obón‐Santacana, Shuji Ogino, Amanda I. Phipps, John D. Potter, Robert E. Schoen, Wei Sun, Amanda E. Toland, Quang M. Trinh, Tomotaka Ugai, Finlay Macrae, Christophe Rosty, Thomas J. Hudson, Mark A. Jenkins, Stephen N. Thibodeau, Ingrid Winship, Ulrike Peters, Daniel D. Buchanan

    Vydáno 2022
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  15. 15
    The Germline and Somatic Origins of Prostate Cancer Heterogeneity

    The Germline and Somatic Origins of Prostate Cancer Heterogeneity Autor Takafumi N. Yamaguchi, Kathleen E. Houlahan, Helen Zhu, Natalie J. Kurganovs, Julie Livingstone, Natalie S. Fox, Jiapei Yuan, Jocelyn Sietsma Penington, Chol-Hee Jung, Tommer Schwarz, Weerachai Jaratlerdsiri, Job van Riet, Peter Georgeson, Stefano Mangiola, Kodi Taraszka, Robert Lesurf, Jue Jiang, Ken Chow, Lawrence E. Heisler, Yu-Jia Shiah, Susmita G. Ramanand, Michael J. Clarkson, Anne Nguyen, Shadrielle M. G. Espiritu, Ryan Stuchbery, Richard Jovelin, Vincent Huang, Connor Bell, Edward O’Connor, Patrick J. McCoy, Christopher M. Lalansingh, Marek Cmero, Adriana Salcedo, Eva K.F. Chan, Lydia Liu, Phillip D. Stricker, Vinayak Bhandari, Riana Bornman, Dorota H.S. Sendorek, Andrew Lonie, Stephenie D. Prokopec, Michael Fraser, Justin S. Peters, Adrien Foucal, Shingai B.A. Mutambirwa, Lachlan McIntosh, Michèle Orain, Matthew J. Wakefield, Valérie Picard, Daniel J. Park, Hélène Hovington, Michael Kerger, Alain Bergeron, Veronica Y. Sabelnykova, Ji-Heui Seo, Mark M. Pomerantz, Noah Zaitlen, Sebastian M. Waszak, Alexander Gusev, Louis Lacombe, Yves Fradet, Andrew Ryan, Amar U. Kishan, Martijn P. Lolkema, Joachim Weischenfeldt, Bernard Têtu, Anthony J. Costello, Vanessa M. Hayes, Rayjean J. Hung, Housheng Hansen He, John D. McPherson, Bogdan Paşaniuc, Theodorus van der Kwast, Anthony T. Papenfuss, Matthew L. Freedman, Bernard J. Pope, Robert G. Bristow, Ram S. Mani, Niall M. Corcoran, Jüri Reimand, Christopher M. Hovens, Paul C. Boutros

    Vydáno 2025
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