Starita, Lea M.

Accurate classification of BRCA1 variants with saturation genome editing

Findlay, G. M., Daza, R. M., Martin, B., Zhang, M. D., Leith, A. P., Gasperini, M., Janizek, J. D., Huang, X., Starita, L. M., & Shendure, J. (2018) · Nature

BRCA gene mutations in cancerGenomics and Rare Diseases

Cited by 843

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

On the design of CRISPR-based single-cell molecular screens

Hill, A. J., McFaline-Figueroa, J. L., Starita, L. M., Gasperini, M. J., Matreyek, K. A., Packer, J., Jackson, D., Shendure, J., & Trapnell, C. (2018) · Nature Methods

CRISPR and Genetic EngineeringSingle-cell and spatial transcriptomics

Cited by 262

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

The power of multiplexed functional analysis of genetic variants

Gasperini, M., Starita, L., & Shendure, J. (2016) · Nature Protocols

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 160

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

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

Deep Mutational Scanning: A Highly Parallel Method to Measure the Effects of Mutation on Protein Function

Starita, L. M., & Fields, S. (2015) · Cold Spring Harbor Protocols

Fungal and yeast genetics researchCRISPR and Genetic Engineering

Cited by 32

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

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