Fayer, Shawn

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

Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

Allen, S., Garrett, A., Muffley, L., Fayer, S., Foreman, J., Adams, D. J., Hurles, M., Rubin, A. F., Roth, F. P., Starita, L. M., et al. (2024) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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

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