Hasil Pencarian - Mark J Cowley

Perbaiki Hasil
  1. 1
    Unscrambling cancer genomes via integrated analysis of structural variation and copy number

    Unscrambling cancer genomes via integrated analysis of structural variation and copy number oleh Charles Shale, Daniel L. Cameron, Jonathan Baber, Marie Wong, Mark J. Cowley, Anthony T. Papenfuss, Edwin Cuppen, Peter Priestley

    Diterbitkan 2022-04-01
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  2. 2
    A sustained dietary change increases epigenetic variation in isogenic mice.

    A sustained dietary change increases epigenetic variation in isogenic mice. oleh Cheryl C Y Li, Jennifer E Cropley, Mark J Cowley, Thomas Preiss, David I K Martin, Catherine M Suter

    Diterbitkan 2011-04-01
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  3. 3
    Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression

    Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression oleh Mahdi Zeraati, Aaron L. Moye, Jason W. H. Wong, Dilmi Perera, Mark J. Cowley, Daniel U. Christ, Tracy M. Bryan, Marcel E. Dinger

    Diterbitkan 2017-04-01
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  4. 4
    RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

    RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL). oleh Jacqueline Rehn, Chelsea Mayoh, Susan L Heatley, Barbara J McClure, Laura N Eadie, Caitlin Schutz, David T Yeung, Mark J Cowley, James Breen, Deborah L White

    Diterbitkan 2022-10-01
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  5. 5
    Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

    Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD oleh Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J. Cowley, John Shine, Amali Mallawaarachchi

    Diterbitkan 2023-07-01
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  6. 6
    A Preexistent Hypoxic Gene Signature Predicts Impaired Islet Graft Function and Glucose Homeostasis

    A Preexistent Hypoxic Gene Signature Predicts Impaired Islet Graft Function and Glucose Homeostasis oleh James Cantley, Stacey N. Walters, Min-Ho Jung, Anita Weinberg, Mark J. Cowley, P. Tess Whitworth, Warren Kaplan, Wayne J. Hawthorne, Philip J. O'connell, Gordon Weir, Shane T. Grey

    Diterbitkan 2013-11-01
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  7. 7
    ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data

    ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data oleh Andre E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David M. Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger, Mark J. Cowley

    Diterbitkan 2021-02-01
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  8. 8
    Expression of Pro- and Antiapoptotic Molecules of the Bcl-2 Family in Human Islets Postisolation

    Expression of Pro- and Antiapoptotic Molecules of the Bcl-2 Family in Human Islets Postisolation oleh Peter D. Campbell, Anita Weinberg, Jonathan Chee, Lina Mariana, Rochelle Ayala, Wayne J. Hawthorne, Philip J. O'connell, Thomas Loudovaris, Mark J. Cowley, Thomas W. Kay, Shane T. Grey, Helen E. Thomas

    Diterbitkan 2012-02-01
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  9. 9
    Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

    Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms oleh Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. Sue

    Diterbitkan 2018-09-01
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  10. 10
    Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome

    Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome oleh Jordan Staunton, Pamela Ajuyah, Angela Harris, Chelsea Mayoh, Marie Wong, Megan Rumford, Patricia J. Sullivan, Paul G. Ekert, Noemi Fuentes-Bolanos, Mark J. Cowley, Loretta M. S. Lau, David S. Ziegler, Paulette Barahona, Neevika Manoharan

    Diterbitkan 2024-10-01
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  11. 11
    Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor

    Efficacy of MEK inhibition in a recurrent malignant peripheral nerve sheath tumor oleh Sumanth Nagabushan, Loretta M. S. Lau, Paulette Barahona, Marie Wong, Alexandra Sherstyuk, Glenn M. Marshall, Vanessa Tyrrell, Eva A. Wegner, Paul G. Ekert, Mark J. Cowley, Chelsea Mayoh, Toby N. Trahair, Philip Crowe, Antoinette Anazodo, David S. Ziegler

    Diterbitkan 2021-02-01
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  12. 12
    Human Islets Express a Marked Proinflammatory Molecular Signature Prior to Transplantation

    Human Islets Express a Marked Proinflammatory Molecular Signature Prior to Transplantation oleh Mark J. Cowley, Anita Weinberg, Nathan W. Zammit, Stacey N. Walters, Wayne J. Hawthorne, Thomas Loudovaris, Helen Thomas, Tom Kay, Jenny E. Gunton, Stephen I. Alexander, Warren Kaplan, Jeremy Chapman, Philip J. O'Connell, Shane T. Grey

    Diterbitkan 2012-09-01
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  13. 13
    Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies

    Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies oleh Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson

    Diterbitkan 2022-03-01
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  14. 14
    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy

    A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy oleh Sushmitha Gururaj, Elizabeth Emma Palmer, Garrett D. Sheehan, Tejaswi Kandula, Rebecca Macintosh, Kevin Ying, Paula Morris, Jiang Tao, Kerith-Rae Dias, Ying Zhu, Marcel E. Dinger, Mark J. Cowley, Edwin P. Kirk, Tony Roscioli, Rani Sachdev, Michael E. Duffey, Ann Bye, Arin Bhattacharjee

    Diterbitkan 2017-10-01
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  15. 15
    Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

    Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications oleh Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley

    Diterbitkan 2023-05-01
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  16. 16
    Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes

    Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes oleh Pamela Ajuyah, Chelsea Mayoh, Loretta M. S. Lau, Paulette Barahona, Marie Wong, Hazel Chambers, Fatima Valdes-Mora, Akanksha Senapati, Andrew J. Gifford, Colleen D’Arcy, Jordan R. Hansford, Neevika Manoharan, Wayne Nicholls, Molly M. Williams, Paul J. Wood, Mark J. Cowley, Vanessa Tyrrell, Michelle Haber, Paul G. Ekert, David S. Ziegler, Dong-Anh Khuong-Quang

    Diterbitkan 2023-03-01
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  17. 17
    qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles.

    qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles. oleh Sarah Song, Katia Nones, David Miller, Ivon Harliwong, Karin S Kassahn, Mark Pinese, Marina Pajic, Anthony J Gill, Amber L Johns, Matthew Anderson, Oliver Holmes, Conrad Leonard, Darrin Taylor, Scott Wood, Qinying Xu, Felicity Newell, Mark J Cowley, Jianmin Wu, Peter Wilson, Lynn Fink, Andrew V Biankin, Nic Waddell, Sean M Grimmond, John V Pearson

    Diterbitkan 2012-01-01
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  18. 18
    In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma

    In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma oleh Jacqueline P. Whitehouse, Jacqueline P. Whitehouse, Hilary Hii, Chelsea Mayoh, Chelsea Mayoh, Marie Wong, Marie Wong, Pamela Ajuyah, Paulette Barahona, Louise Cui, Hetal Dholaria, Hetal Dholaria, Hetal Dholaria, Christine L. White, Christine L. White, Christine L. White, Molly K. Buntine, Molly K. Buntine, Jacob Byrne, Keteryne Rodrigues da Silva, Keteryne Rodrigues da Silva, Meegan Howlett, Meegan Howlett, Emily J. Girard, Emily J. Girard, Maria Tsoli, Maria Tsoli, David S. Ziegler, David S. Ziegler, David S. Ziegler, Jason M. Dyke, Jason M. Dyke, Sharon Lee, Paul G. Ekert, Paul G. Ekert, Paul G. Ekert, Paul G. Ekert, Paul G. Ekert, Mark J. Cowley, Mark J. Cowley, Nicholas G. Gottardo, Nicholas G. Gottardo, Nicholas G. Gottardo, Raelene Endersby, Raelene Endersby

    Diterbitkan 2023-03-01
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  19. 19
    Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer

    Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer oleh Maria Tsoli, Carol Wadham, Mark Pinese, Tim Failes, Swapna Joshi, Emily Mould, Julia X. Yin, Velimir Gayevskiy, Amit Kumar, Warren Kaplan, Paul G. Ekert, Federica Saletta, Laura Franshaw, Jie Liu, Andrew Gifford, Martin A. Weber, Michael Rodriguez, Richard J. Cohn, Greg Arndt, Vanessa Tyrrell, Michelle Haber, Toby Trahair, Glenn M. Marshall, Kerrie McDonald, Mark J. Cowley, David S. Ziegler

    Diterbitkan 2018-12-01
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  20. 20
    Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance

    Mitochondrial CoQ deficiency is a common driver of mitochondrial oxidants and insulin resistance oleh Daniel J Fazakerley, Rima Chaudhuri, Pengyi Yang, Ghassan J Maghzal, Kristen C Thomas, James R Krycer, Sean J Humphrey, Benjamin L Parker, Kelsey H Fisher-Wellman, Christopher C Meoli, Nolan J Hoffman, Ciana Diskin, James G Burchfield, Mark J Cowley, Warren Kaplan, Zora Modrusan, Ganesh Kolumam, Jean YH Yang, Daniel L Chen, Dorit Samocha-Bonet, Jerry R Greenfield, Kyle L Hoehn, Roland Stocker, David E James

    Diterbitkan 2018-02-01
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