Hasil Pencarian - Douglas M. Fowler

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  1. 1
    Keeping up with the genomes: scaling genomic variant interpretation

    Keeping up with the genomes: scaling genomic variant interpretation oleh Heidi L. Rehm, Douglas M. Fowler

    Diterbitkan 2019-12-01
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  2. 2
    Functional amyloidogenesis and cytotoxicity-insights into biology and pathology.

    Functional amyloidogenesis and cytotoxicity-insights into biology and pathology. oleh Douglas M Fowler, Jeffery W Kelly

    Diterbitkan 2012-01-01
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  3. 3
    Comprehensive exploration of the translocation, stability and substrate recognition requirements in VIM-2 lactamase

    Comprehensive exploration of the translocation, stability and substrate recognition requirements in VIM-2 lactamase oleh John Z Chen, Douglas M Fowler, Nobuhiko Tokuriki

    Diterbitkan 2020-06-01
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  4. 4
    Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.

    Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. oleh Ting-Wei Mu, Douglas M Fowler, Jeffery W Kelly

    Diterbitkan 2008-02-01
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  5. 5
    Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers

    Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers oleh Kenneth A. Matreyek, Jason J. Stephany, Ethan Ahler, Douglas M. Fowler

    Diterbitkan 2021-10-01
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  6. 6
    Functional amyloid formation within mammalian tissue.

    Functional amyloid formation within mammalian tissue. oleh Douglas M Fowler, Atanas V Koulov, Christelle Alory-Jost, Michael S Marks, William E Balch, Jeffery W Kelly

    Diterbitkan 2006-01-01
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  7. 7
    A statistical framework for analyzing deep mutational scanning data

    A statistical framework for analyzing deep mutational scanning data oleh Alan F. Rubin, Hannah Gelman, Nathan Lucas, Sandra M. Bajjalieh, Anthony T. Papenfuss, Terence P. Speed, Douglas M. Fowler

    Diterbitkan 2017-08-01
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  8. 8
    Correction to: A statistical framework for analyzing deep mutational scanning data

    Correction to: A statistical framework for analyzing deep mutational scanning data oleh Alan F. Rubin, Hannah Gelman, Nathan Lucas, Sandra M. Bajjalieh, Anthony T. Papenfuss, Terence P. Speed, Douglas M. Fowler

    Diterbitkan 2018-02-01
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  9. 9
    Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational Scanning

    Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational Scanning oleh Vanessa E. Gray, Katherine Sitko, Floriane Z. Ngako Kameni, Miriam Williamson, Jason J. Stephany, Nicholas Hasle, Douglas M. Fowler

    Diterbitkan 2019-11-01
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  10. 10
    MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect

    MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect oleh Daniel Esposito, Jochen Weile, Jay Shendure, Lea M. Starita, Anthony T. Papenfuss, Frederick P. Roth, Douglas M. Fowler, Alan F. Rubin

    Diterbitkan 2019-11-01
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  11. 11
    Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling

    Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling oleh Willow Coyote-Maestas, David Nedrud, Antonio Suma, Yungui He, Kenneth A. Matreyek, Douglas M. Fowler, Vincenzo Carnevale, Chad L. Myers, Daniel Schmidt

    Diterbitkan 2021-12-01
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  12. 12
    Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs

    Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs oleh John C. Rose, Nicholas A. Popp, Christopher D. Richardson, Jason J. Stephany, Julie Mathieu, Cindy T. Wei, Jacob E. Corn, Dustin J. Maly, Douglas M. Fowler

    Diterbitkan 2020-06-01
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  13. 13
    An Atlas of Variant Effects to understand the genome at nucleotide resolution

    An Atlas of Variant Effects to understand the genome at nucleotide resolution oleh Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles

    Diterbitkan 2023-07-01
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  14. 14
    High‐throughput, microscope‐based sorting to dissect cellular heterogeneity

    High‐throughput, microscope‐based sorting to dissect cellular heterogeneity oleh Nicholas Hasle, Anthony Cooke, Sanjay Srivatsan, Heather Huang, Jason J Stephany, Zachary Krieger, Dana Jackson, Weiliang Tang, Sriram Pendyala, Raymond J Monnat Jr., Cole Trapnell, Emily M Hatch, Douglas M Fowler

    Diterbitkan 2020-06-01
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  15. 15
    Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

    Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact oleh Melissa A Chiasson, Nathan J Rollins, Jason J Stephany, Katherine A Sitko, Kenneth A Matreyek, Marta Verby, Song Sun, Frederick P Roth, Daniel DeSloover, Debora S Marks, Allan E Rettie, Douglas M Fowler

    Diterbitkan 2020-09-01
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  16. 16
    Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants

    Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants oleh Martin Grønbæk-Thygesen, Vasileios Voutsinos, Kristoffer E. Johansson, Thea K. Schulze, Matteo Cagiada, Line Pedersen, Lene Clausen, Snehal Nariya, Rachel L. Powell, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

    Diterbitkan 2024-05-01
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  17. 17
    A mutational atlas for Parkin proteostasis

    A mutational atlas for Parkin proteostasis oleh Lene Clausen, Vasileios Voutsinos, Matteo Cagiada, Kristoffer E. Johansson, Martin Grønbæk-Thygesen, Snehal Nariya, Rachel L. Powell, Magnus K. N. Have, Vibe H. Oestergaard, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

    Diterbitkan 2024-02-01
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  18. 18
    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

    Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation oleh Hannah Gelman, Jennifer N. Dines, Jonathan Berg, Alice H. Berger, Sarah Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian Shirts, Douglas M. Fowler, Lea M. Starita, On behalf of the Brotman Baty Institute Mutational Scanning Working Group

    Diterbitkan 2019-12-01
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  19. 19
    High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology

    High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology oleh Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Zerubabell A. Daniel, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden, Andrew M. Glazer

    Diterbitkan 2024-05-01
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  20. 20
    Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6‐Mediated Metabolic Activity

    Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6‐Mediated Metabolic Activity oleh Rachel Dalton, Seung‐been Lee, Katrina G. Claw, Bhagwat Prasad, Brian R. Phillips, Danny D. Shen, Lai Hong Wong, Mitch Fade, Matthew G. McDonald, Maitreya J. Dunham, Douglas M. Fowler, Allan E. Rettie, Erin Schuetz, Timothy A. Thornton, Deborah A. Nickerson, Andrea Gaedigk, Kenneth E. Thummel, Erica L. Woodahl

    Diterbitkan 2020-01-01
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