Fowler, Douglas M.

Deep mutational scanning: a new style of protein science

Fowler, D. M., & Fields, S. (2014) · Nature Methods

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 1,287

High-resolution mapping of protein sequence-function relationships

Fowler, D. M., Araya, C. L., Fleishman, S. J., Kellogg, E. H., Stephany, J. J., Baker, D., & Fields, S. (2010) · Nature Methods

Chemical Synthesis and AnalysisProtein Structure and Dynamics

Cited by 516

Multiplex assessment of protein variant abundance by massively parallel sequencing

Matreyek, K. A., Starita, L. M., Stephany, J. J., Martin, B., Chiasson, M. A., Gray, V. E., Kircher, M., Khechaduri, A., Dines, J. N., Hause, R. J., et al. (2018) · Nature Genetics

Genomics and Rare DiseasesCancer Genomics and Diagnostics

Cited by 436

Variant interpretation: functional assays to the rescue

Starita, L. M., Ahituv, N., Dunham, M. J., Kitzman, J. O., Roth, F. P., Seelig, G., Shendure, J., & Fowler, D. M. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 381

A statistical framework for analyzing deep mutational scanning data

Rubin, A. F., Gelman, H., Lucas, N., Bajjalieh, S. M., Papenfuss, A. T., Speed, T. P., & Fowler, D. M. (2017) · Genome Biology

CRISPR and Genetic EngineeringGenomics and Rare Diseases

Cited by 262

A fundamental protein property, thermodynamic stability, revealed solely from large-scale measurements of protein function

Araya, C. L., Fowler, D. M., Chen, W., Muniez, I., Kelly, J. W., & Fields, S. (2012) · Proceedings of the National Academy of Sciences

Protein Structure and Dynamicsthermodynamics and calorimetric analyses

Cited by 230

A framework for exhaustively mapping functional missense variants

Weile, J., Sun, S., Cote, A. G., Knapp, J., Verby, M., Mellor, J. C., Wu, Y., Pons, C., Wong, C., van Lieshout, N., et al. (2017) · Molecular Systems Biology

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 187

Activity-enhancing mutations in an E3 ubiquitin ligase identified by high-throughput mutagenesis

Starita, L. M., Pruneda, J. N., Lo, R. S., Fowler, D. M., Kim, H. J., Hiatt, J. B., Shendure, J., Brzovic, P. S., Fields, S., & Klevit, R. E. (2013) · Proceedings of the National Academy of Sciences

Ubiquitin and proteasome pathwaysProtein Degradation and Inhibitors

Cited by 183

An improved platform for functional assessment of large protein libraries in mammalian cells

Matreyek, K. A., Stephany, J. J., Chiasson, M. A., Hasle, N., & Fowler, D. M. (2019) · Nucleic Acids Research

CRISPR and Genetic EngineeringVirus-based gene therapy research

Cited by 122

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

Suiter, C. C., Moriyama, T., Matreyek, K. A., Yang, W., Scaletti, E. R., Nishii, R., Yang, W., Hoshitsuki, K., Singh, M., Trehan, A., et al. (2020) · Proceedings of the National Academy of Sciences

Pharmacogenetics and Drug MetabolismGenomics and Rare Diseases

Cited by 121

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

On behalf of the Brotman Baty Institute Mutational Scanning Working Group, Gelman, H., Dines, J. N., Berg, J., Berger, A. H., Brnich, S., Hisama, F. M., James, R. G., Rubin, A. F., Shendure, J., et al. (2019) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 81

MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

Rubin, A. F., Stone, J., Bianchi, A. H., Capodanno, B. J., Da, E. Y., Dias, M., Esposito, D., Frazer, J., Fu, Y., Grindstaff, S. B., et al. (2025) · Genome Biology

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 80

A mutational atlas for Parkin proteostasis

Clausen, L., Voutsinos, V., Cagiada, M., Johansson, K. E., Grønbæk-Thygesen, M., Nariya, S., Powell, R. L., Have, M. K. N., Oestergaard, V. H., Stein, A., et al. (2024) · Nature Communications

Parkinson's Disease Mechanisms and TreatmentsUbiquitin and proteasome pathways

Cited by 51

Integrating thousands of PTEN variant activity and abundance measurements reveals variant subgroups and new dominant negatives in cancers

Matreyek, K. A., Stephany, J. J., Ahler, E., & Fowler, D. M. (2021) · Genome Medicine

PI3K/AKT/mTOR signaling in cancerCancer Genomics and Diagnostics

Cited by 48

Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes

Tejura, M., Fayer, S., McEwen, A. E., Flynn, J., Starita, L. M., & Fowler, D. M. (2024) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 35

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Dawood, M., Fayer, S., Pendyala, S., Post, M., Kalra, D., Patterson, K., Venner, E., Muffley, L. A., Fowler, D. M., Rubin, A. F., et al. (2024) · Genome Medicine

Genomics and Rare DiseasesRace, Genetics, and Society

Cited by 31

Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes

Friedman, C. E., Fayer, S., Pendyala, S., Chien, W.-M., Loiben, A., Tran, L., Chao, L. S., McKinstry, A., Ahmed, D., Farris, S. D., et al. (2024) · Circulation: Genomic and Precision Medicine

Cardiomyopathy and Myosin StudiesGenomics and Rare Diseases

Cited by 17

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP

Popp, N. A., Powell, R. L., Wheelock, M. K., Holmes, K. J., Zapp, B. D., Sheldon, K. M., Fletcher, S. N., Wu, X., Fayer, S., Rubin, A. F., et al. (2025) · Nature Structural & Molecular Biology

Hemophilia Treatment and ResearchGenomics and Rare Diseases

Cited by 15

Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects

Pendyala, S., Partington, K., Bradley, N., McEwen, A. E., Straub, G., Kim, H.-J., Fayer, S., Holmes, D. L., Sitko, K. A., Garge, R. K., et al. (2026) · Cell

Genomics and Rare DiseasesNuclear Structure and Function

Cited by 10

MaveMD: A functional data resource for genomic medicine

McEwen, A. E., Stone, J., Tejura, M., Gupta, P., Capodanno, B. J., Da, E. Y., Grindstaff, S. B., Moore, N., Reinhart, D., Snyder, A. E., et al. (2025) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 5

Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts

Fayer, S., Garge, R. K., Hopkins, M., Friedman, C. E., McGee, A. V., Rico, J., Powell, R. L., McDermot, E., Smith, N. T., Pendyala, S., et al. (2025) · medRxiv

CRISPR and Genetic EngineeringGenomics and Rare Diseases

Cited by 4