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Author Details

Douglas M Fowler
University of Washington, USA Brotman Baty Institute for Precision Medicine
2006
78
34
PMIDPaper TitleJournal TitlePublished Year
37205341Image-based identification and isolation of micronucleated cells to dissect cellular consequences.bioRxiv2024
38086381Will variants of uncertain significance still exist in 2030?Am J Hum Genet2024
37683649Profiling of drug resistance in Src kinase at scale uncovers a regulatory network coupling autoinhibition and catalytic domain dynamics.Cell Chem Biol2024
36747685CRaTER enrichment for on-target gene-editing enables generation of variant libraries in hiPSCs.bioRxiv2023
37556359Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases.G3 (Bethesda)2023
37556311Highlighting rare disease research with a GENETICS and G3 series on genetic models of rare diseases.Genetics2023
37956352Optogenetic Microwell Array Screening System: A High-Throughput Engineering Platform for Genetically Encoded Fluorescent Indicators.ACS Sens2023
37394429An Atlas of Variant Effects to understand the genome at nucleotide resolution.Genome Biol2023
37019277CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCs.J Mol Cell Cardiol2023
37167432Molecular determinants of Hsp90 dependence of Src kinase revealed by deep mutational scanning.Protein Sci2023
37162834High-throughput functional mapping of variants in an arrhythmia gene, <i>KCNE1</i>, reveals novel biology.bioRxiv2023
36879061A chemically controlled Cas9 switch enables temporal modulation of diverse effectors.Nat Chem Biol2023
34516287Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays.Annu Rev Pharmacol Toxicol2022
35210579Environmental selection and epistasis in an empirical phenotype-environment-fitness landscape.Nat Ecol Evol2022
34314704Massively parallel characterization of CYP2C9 variant enzyme activity and abundance.Am J Hum Genet2021
33779753Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance.Mol Biol Evol2021
34880224Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling.Nat Commun2021
34793697Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.Am J Hum Genet2021
34649609Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers.Genome Med2021
31536170Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.Clin Transl Sci2020
31928070Deep Mutational Scan of an <i>SCN5A</i> Voltage Sensor.Circ Genom Precis Med2020
32046842Temporal and rheostatic control of genome editing with a chemically-inducible Cas9.Methods Enzymol2020
31911673Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".Genet Med2020
32094176Massively parallel variant characterization identifies <i>NUDT15</i> alleles associated with thiopurine toxicity.Proc Natl Acad Sci U S A2020
32649906Parallel Chemoselective Profiling for Mapping Protein Structure.Cell Chem Biol2020
32870157Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.Elife2020
32366478A Premalignant Cell-Based Model for Functionalization and Classification of <i>PTEN</i> Variants.Cancer Res2020
32500953High-throughput, microscope-based sorting to dissect cellular heterogeneity.Mol Syst Biol2020
32522694High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K<sub>V</sub>11.1.Heart Rhythm2020
32483117Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs.Nat Commun2020
32510322Comprehensive exploration of the translocation, stability and substrate recognition requirements in VIM-2 lactamase.Elife2020
31612958An improved platform for functional assessment of large protein libraries in mammalian cells.Nucleic Acids Res2020
31145826Applying Multiplex Assays to Understand Variation in Pharmacogenes.Clin Pharmacol Ther2019
31862013Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.Genome Med2019
31892366Keeping up with the genomes: scaling genomic variant interpretation.Genome Med2019
31679514MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect.Genome Biol2019
31558564Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational Scanning.G3 (Bethesda)2019
31451538The Impact of Genetic Variants on <i>PTEN</i> Molecular Functions and Cellular Phenotypes.Cold Spring Harb Perspect Med2019
31253976Mutagenesis-based protein structure determination.Nat Genet2019
30956043A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent Functions.Mol Cell2019
30712981Biophysical and Mechanistic Models for Disease-Causing Protein Variants.Trends Biochem Sci2019
28895730Rheostatic Control of Cas9-Mediated DNA Double Strand Break (DSB) Generation and Genome Editing.ACS Chem Biol2018
29415752Correction to: A statistical framework for analyzing deep mutational scanning data.Genome Biol2018
29785012Multiplex assessment of protein variant abundance by massively parallel sequencing.Nat Genet2018
29226803Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.Cell Syst2018
28737741Rapidly inducible Cas9 and DSB-ddPCR to probe editing kinetics.Nat Methods2017
28340351Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Cell2017
28335006A platform for functional assessment of large variant libraries in mammalian cells.Nucleic Acids Res2017
29283396Pharmacogenomics of CYP2C9: Functional and Clinical Considerations.J Pers Med2017
28939764Early emergence of negative regulation of the tyrosine kinase Src by the C-terminal Src kinase.J Biol Chem2017
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Collaborators

Stanley Fields
University of Washington
Co-authored papers 9
Alan F Rubin
The Walter and Eliza Hall Institute of Medical Research
Co-authored papers 7
Jay Shendure
University of Washington
Co-authored papers 7
Lea M Starita
University of Washington and Brotman Baty Institute for Precision Medicine
Co-authored papers 6
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 5
Frederick P Roth
University of Toronto
Co-authored papers 5
Mary V Relling
Departments of Pharmaceutical Sciences.
Co-authored papers 3
Anthony T Papenfuss
Co-authored papers 3
Andrew M Glazer
Vanderbilt University
Co-authored papers 3
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 3
Debora S Marks
Blavatnik Institute, Harvard Medical School
Co-authored papers 2
Rasmus Hartmann-Petersen
University of Copenhagen
Co-authored papers 2
Philip Hieter
University of British Columbia
Co-authored papers 2
Robert L Nussbaum
Invitae Corporation
Co-authored papers 2
Terence P Speed
Co-authored papers 2
Brenda J Andrews
University of Toronto
Co-authored papers 2
Elaheh Karbassi
Co-authored papers 2
Smita Bhatia
Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham
Co-authored papers 2
Miklos Guttman
University of Washington
Co-authored papers 2
Walther Mothes
Co-authored papers 1
Christine E Seidman
Brigham and Women's Hospital (Y.K.
Co-authored papers 1
P??l Stenmark
Stockholm University
Co-authored papers 1
Teri E Klein
Stanford University
Co-authored papers 1
Nadav Ahituv
University of California san francisco
Co-authored papers 1
Deborah A Nickerson
University of Washington
Co-authored papers 1
Lie Li
Sino-French Hoffmann Institute, Guangzhou Medical University
Co-authored papers 1
Bridget Carragher
Columbia University
Co-authored papers 1
Lawrence Lin
University of California San Francisco
Co-authored papers 1
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Cecilia W Lo
University of Pittsburgh School of Medicine
Co-authored papers 1
Release 1.2