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D. Fowler · SciRah

Researcher profile · Semantic Scholar

D. Fowler

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D. Fowler — researcher profile on SciRah

h-index: 46
Works: 115
Citations: 11K

Most-cited papers

Deep mutational scanning: a new style of protein science
D. Fowler, S. Fields
2014Nature Methods1,257 citations Open access
Semantic Scholar
Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing
Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, B. Martin +12 more
2018Nature Genetics414 citations Open access
Semantic Scholar
Variant Interpretation: Functional Assays to the Rescue.
Lea M. Starita, N. Ahituv, Maitreya J. Dunham, J. Kitzman +4 more
2017American Journal of Human Genetics367 citations Open access
Semantic Scholar
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Lea M. Starita, David L. Young, Muhtadi M. Islam, J. Kitzman +6 more
2015Genetics280 citations Open access
Semantic Scholar
A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function
C. L. Araya, D. Fowler, Wentao Chen, I. Muniez +2 more
2012Proceedings of the National Academy of Sciences of the United States of America245 citations Open access
Semantic Scholar
A statistical framework for analyzing deep mutational scanning data
Alan F. Rubin, Hannah Gelman, Nathan Lucas, S. Bajjalieh +3 more
2017Genome Biology233 citations Open access
Semantic Scholar
MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
Daniel Esposito, Jochen Weile, J. Shendure, Lea M. Starita +4 more
2019Genome Biology230 citations Open access
Semantic Scholar
Pharmacogenomics of CYP2C9: Functional and Clinical Considerations†
A. Daly, A. Rettie, D. Fowler, J. Miners
2017Journal of Personalized Medicine216 citations Open access
Semantic Scholar
Quantitative missense variant effect prediction using large-scale mutagenesis data
Vanessa E. Gray, Ronald J. Hause, J. Luebeck, J. Shendure +1 more
2017Cell Systems207 citations Open access
Semantic Scholar
A framework for exhaustively mapping functional missense variants
Jochen Weile, Song Sun, Atina G. Coté, Jennifer J. Knapp +17 more
2017Molecular Systems Biology204 citations Open access
Semantic Scholar
Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis
Lea M. Starita, J. Pruneda, Russell S. Lo, D. Fowler +6 more
2013Proceedings of the National Academy of Sciences of the United States of America201 citations Open access
Semantic Scholar
Measuring the activity of protein variants on a large scale using deep mutational scanning
D. Fowler, Jason J. Stephany, S. Fields
2014Nature Protocols191 citations Open access
Semantic Scholar
Biophysical and Mechanistic models for disease-causing protein variants
A. Stein, D. Fowler, R. Hartmann-Petersen, K. Lindorff-Larsen
2019TIBS -Trends in Biochemical Sciences. Regular ed167 citations Open access
Semantic Scholar
An improved platform for functional assessment of large protein libraries in mammalian cells
Kenneth A. Matreyek, Jason J. Stephany, Melissa A. Chiasson, Nicholas Hasle +1 more
2019Nucleic Acids Research150 citations Open access
Semantic Scholar
A platform for functional assessment of large variant libraries in mammalian cells
Kenneth A. Matreyek, Jason J. Stephany, D. Fowler
2017Nucleic Acids Research144 citations Open access
Semantic Scholar
Analysis of Large-Scale Mutagenesis Data To Assess the Impact of Single Amino Acid Substitutions
Vanessa E. Gray, Ronald J. Hause, D. Fowler
2017Genetics113 citations Open access
Semantic Scholar
Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity
C. Suiter, Takaya Moriyama, Kenneth A. Matreyek, Wentao Yang +28 more
2020Proceedings of the National Academy of Sciences of the United States of America107 citations Open access
Semantic Scholar
An Atlas of Variant Effects to understand the genome at nucleotide resolution
D. Fowler, D. J. Adams, A. Gloyn, William C. Hahn +7 more
2023Genome Biology105 citations Open access
Semantic Scholar
Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance
M. Cagiada, K. Johansson, Audronė Valančiūtė, Sofie V. Nielsen +5 more
2020bioRxiv105 citations Open access
Semantic Scholar
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
T. Manolio, D. Fowler, Lea M. Starita, M. Haendel +27 more
2017Cell105 citations Open access
Semantic Scholar
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
Shawn Fayer, Carrie Horton, J. N. Dines, Alan F. Rubin +8 more
2021American Journal of Human Genetics99 citations Open access
Semantic Scholar
Rapidly inducible Cas9 and DSB-ddPCR to probe editing kinetics
John C. Rose, Jason J. Stephany, W. Valente, Bridget M. Trevillian +4 more
2017Nature Methods97 citations Open access
Semantic Scholar
Will variants of uncertain significance still exist in 2030?
D. Fowler, H. Rehm
2023American Journal of Human Genetics94 citations Open access
Semantic Scholar
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance
Clara J. Amorosi, Melissa A. Chiasson, M. McDonald, Lai H. Wong +6 more
2021bioRxiv93 citations Open access
Semantic Scholar
Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact
Melissa A. Chiasson, Nathan J. Rollins, Jason J. Stephany, K. Sitko +8 more
2020bioRxiv82 citations Open access
Semantic Scholar
Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation
Hannah Gelman, J. N. Dines, J. Berg, A. Berger +8 more
2019Genome Medicine70 citations Open access
Semantic Scholar
High‐throughput, microscope‐based sorting to dissect cellular heterogeneity
Nicholas Hasle, Anthony Cooke, S. Srivatsan, Heather Z. Huang +9 more
2020Molecular Systems Biology69 citations Open access
Semantic Scholar
An integrated approach reveals a regulatory mechanism coupling Src’s kinase activity, localization, and phosphotransferase-independent functions
Ethan Ahler, A. Register, Sujata Chakraborty, L. Fang +11 more
2019Molecules and Cells53 citations Open access
Semantic Scholar
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1
Krystian Kozek, A. Glazer, C. Ng, Daniel J. Blackwell +10 more
2020Heart Rhythm52 citations Open access
Semantic Scholar
Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
J. N. Dines, B. Shirts, T. Slavin, T. Walsh +3 more
2020Genetics in Medicine50 citations Open access
Semantic Scholar
Suppression of unwanted CRISPR-Cas9 editing by co-administration of catalytically inactivating truncated guide RNAs
John C. Rose, Nicholas A. Popp, C. Richardson, Jason J. Stephany +5 more
2019Nature Communications50 citations Open access
Semantic Scholar
Deep Mutational Scan of an SCN5A Voltage Sensor
A. Glazer, B. Kroncke, Kenneth A. Matreyek, Tao Yang +5 more
2020Circulation Genomic and Precision Medicine49 citations Open access
Semantic Scholar
A mutational atlas for Parkin proteostasis
Lene Clausen, Vasileios Voutsinos, M. Cagiada, K. Johansson +9 more
2023bioRxiv48 citations Open access
Semantic Scholar
Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6‐Mediated Metabolic Activity
R. Dalton, Seung‐been Lee, Katrina G. Claw, B. Prasad +14 more
2019Clinical and Translational Science48 citations Open access
Semantic Scholar
Engineering A-kinase Anchoring Protein (AKAP)-selective Regulatory Subunits of Protein Kinase A (PKA) through Structure-based Phage Selection
M. Gold, D. Fowler, C. Means, Catherine T. Pawson +4 more
2013Journal of Biological Chemistry46 citations Open access
Semantic Scholar
Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers
Kenneth A. Matreyek, Jason J. Stephany, Ethan Ahler, D. Fowler
2021Genome Medicine45 citations Open access
Semantic Scholar
Comprehensive exploration of the translocation, stability and substrate recognition requirements in VIM-2 lactamase
Johnson Chen, D. Fowler, N. Tokuriki
2020bioRxiv41 citations Open access
Semantic Scholar
Expression and Functional Characterization of Breast Cancer-Associated Cytochrome P450 4Z1 in Saccharomyces cerevisiae
M. McDonald, Sutapa Ray, Clara J. Amorosi, K. Sitko +8 more
2017Drug Metabolism And Disposition41 citations Open access
Semantic Scholar
Contemporary, yeast-based approaches to understanding human genetic variation
Maitreya J. Dunham, D. Fowler
2013Current Opinion in Genetics and Development39 citations Open access
Semantic Scholar
Elucidating the Molecular Determinants of Aβ Aggregation with Deep Mutational Scanning
Vanessa E. Gray, K. Sitko, Floriane Z. Ngako Kameni, M. Williamson +3 more
2019G3: Genes, Genomes, Genetics35 citations Open access
Semantic Scholar
Probing ion channel functional architecture and domain recombination compatibility by massively parallel domain insertion profiling
Willow Coyote-Maestas, David Nedrud, A. Suma, Yun-Gui He +5 more
2021Nature Communications29 citations Open access
Semantic Scholar
MaveRegistry: a collaboration platform for multiplexed assays of variant effect
Da Kuang, Jochen Weile, Nishka Kishore, Maria H. T. Nguyen +4 more
2020bioRxiv25 citations Open access
Semantic Scholar
Environmental selection and epistasis in an empirical phenotype–environment–fitness landscape
J.-Z. Chen, D. Fowler, N. Tokuriki
2022Nature Ecology & Evolution23 citations Open access
Semantic Scholar
Measuring Pharmacogene Variant Function at Scale Using Multiplexed Assays.
Renee C. Geck, G. Boyle, Clara J. Amorosi, D. Fowler +1 more
2021Annual Review of Pharmacology and Toxicology22 citations Open access
Semantic Scholar
MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays
Alan F. Rubin, Joseph K. Min, Nathan J. Rollins, Estelle Y. Da +20 more
2021bioRxiv21 citations Open access
Semantic Scholar
Keeping up with the genomes: scaling genomic variant interpretation
H. Rehm, D. Fowler
2019Genome Medicine20 citations Open access
Semantic Scholar
A Premalignant Cell-Based Model for Functionalization and Classification of PTEN Variants
Jesse T. Chao, R. Hollman, Warren M. Meyers, Fabian Meili +6 more
2020Cancer Research18 citations Open access
Semantic Scholar
Profiling of drug resistance in Src kinase at scale uncovers a regulatory network coupling autoinhibition and catalytic domain dynamics
Sujata Chakraborty, Ethan Ahler, Jessica J. Simon, L. Fang +6 more
2023Cell Chemical Biology17 citations
Semantic Scholar
A chemically-controlled Cas9 switch enables temporal modulation of diverse effectors
Cindy T. Wei, Nicholas A. Popp, Omri Peleg, Rachel L. Powell +3 more
2023Nature Chemical Biology17 citations
Semantic Scholar
Applying multiplex assays to understand variation in pharmacogenes
Melissa A. Chiasson, Maitreya J. Dunham, A. Rettie, D. Fowler
2019Clinical pharmacology and therapy17 citations Open access
Semantic Scholar

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Jason J. Stephany×13
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Jason J. Stephany — researcher profile on SciRah
Kenneth A. Matreyek×10
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Alan F. Rubin×8
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Lea M. Starita — researcher profile on SciRah

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