Shendure, Jay

CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions

Gasperini, M., Findlay, G. M., McKenna, A., Milbank, J. H., Lee, C., Zhang, M. D., Cusanovich, D. A., & Shendure, J. (2017) · The American Journal of Human Genetics

CRISPR and Genetic EngineeringGenomics and Chromatin Dynamics

Cited by 143

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Alazami, A. M., Al-Qattan, S. M., Faqeih, E., Alhashem, A., Alshammari, M., Alzahrani, F., Al-Dosari, M. S., Patel, N., Alsagheir, A., Binabbas, B., et al. (2016) · Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 110

What Is Your Conceptual Definition of “Cell Type” in the Context of a Mature Organism?

Clevers, H., Rafelski, S., Elowitz, M. B., Klein, A., Shendure, J., Trapnell, C., Lein, E., Lundberg, E. K., Uhlén, M., Martinez-Arias, A., et al. (2017) · Cell Systems

Single-cell and spatial transcriptomicsDevelopmental Biology and Gene Regulation

Cited by 108

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

Klein, J. C., Keith, A., Rice, S. J., Shepherd, C., Agarwal, V., Loughlin, J., & Shendure, J. (2019) · Nature Communications

Osteoarthritis Treatment and MechanismsGenetic Associations and Epidemiology

Cited by 92

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

Targeted enrichment and high‐resolution digital profiling of mitochondrial DNA deletions in human brain

Taylor, S. D., Ericson, N. G., Burton, J. N., Prolla, T. A., Silber, J. R., Shendure, J., & Bielas, J. H. (2014) · Aging Cell

Mitochondrial Function and PathologyForensic and Genetic Research

Cited by 67

Functional characterization of enhancer evolution in the primate lineage

Klein, J. C., Keith, A., Agarwal, V., Durham, T., & Shendure, J. (2018) · Genome Biology

Genomics and Chromatin DynamicsChromosomal and Genetic Variations

Cited by 63

Benchmarked approaches for reconstruction of in vitro cell lineages and in silico models of C. elegans and M. musculus developmental trees

Gong, W., Granados, A. A., Hu, J., Jones, M. G., Raz, O., Salvador-Martínez, I., Zhang, H., Chow, K.-H. K., Kwak, I.-Y., Retkute, R., et al. (2021) · Cell Systems

Single-cell and spatial transcriptomicsDevelopmental Biology and Gene Regulation

Cited by 62

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., et al. (2014) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsCongenital Ear and Nasal Anomalies

Cited by 58

Chromatin accessibility dynamics of myogenesis at single cell resolution

Pliner, H. A., Packer, J., McFaline-Figueroa, J. L., Cusanovich, D. A., Daza, R., Srivatsan, S., Qiu, X., Jackson, D., Minkina, A., Adey, A., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 16

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2012) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 15

Multiplex programming of mappable, molecularly tagged genomic deletions

Keith, A., Daza, R. M., Koeppel, J., Liao, H., Lee, D. S., Moraes, D. K., McDiarmid, T. A., Choi, J., Li, X., Lalanne, J.-B., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory)

CRISPR and Genetic EngineeringRNA regulation and disease

Cited by 0