Martin, Beth

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,240

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

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens

Gasperini, M., Hill, A. J., McFaline-Figueroa, J. L., Martin, B., Kim, S., Zhang, M. D., Jackson, D., Leith, A., Schreiber, J., Noble, W. S., et al. (2019) · Cell

Genomics and Chromatin DynamicsCRISPR and Genetic Engineering

Cited by 613

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

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., et al. (2014) · Nature Communications

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 336

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Inoue, F., Kircher, M., Martin, B., Cooper, G. M., Witten, D. M., McManus, M. T., Ahituv, N., & Shendure, J. (2017) · Genome Research

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 331

Predicting cellular responses to complex perturbations in high‐throughput screens

Lotfollahi, M., Klimovskaia Susmelj, A., De Donno, C., Hetzel, L., Ji, Y., Ibarra, I. L., Srivatsan, S. R., Naghipourfar, M., Daza, R. M., Martin, B., et al. (2023) · Molecular Systems Biology

Single-cell and spatial transcriptomicsGene Regulatory Network Analysis

Cited by 307

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

Kircher, M., Xiong, C., Martin, B., Schubach, M., Inoue, F., Bell, R. J. A., Costello, J. F., Shendure, J., & Ahituv, N. (2019) · Nature Communications

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 234

A systematic evaluation of the design and context dependencies of massively parallel reporter assays

Klein, J. C., Agarwal, V., Inoue, F., Keith, A., Martin, B., Kircher, M., Ahituv, N., & Shendure, J. (2020) · Nature Methods

Genomics and Chromatin DynamicsCRISPR and Genetic Engineering

Cited by 226

Massively parallel characterization of transcriptional regulatory elements

Agarwal, V., Inoue, F., Schubach, M., Penzar, D., Martin, B. K., Dash, P. M., Keukeleire, P., Zhang, Z., Sohota, A., Zhao, J., et al. (2025) · Nature

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 146