Kasowski, Maya

Annotation of functional variation in personal genomes using RegulomeDB

Boyle, A. P., Hong, E. L., Hariharan, M., Cheng, Y., Schaub, M. A., Kasowski, M., Karczewski, K. J., Park, J., Hitz, B. C., Weng, S., et al. (2012) · Genome Research

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 2,722

An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues

Corces, M. R., Trevino, A. E., Hamilton, E. G., Greenside, P. G., Sinnott-Armstrong, N. A., Vesuna, S., Satpathy, A. T., Rubin, A. J., Montine, K. S., Wu, B., et al. (2017) · Nature Methods

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 2,496

Expanded encyclopaedias of DNA elements in the human and mouse genomes

The ENCODE Project Consortium, Abascal, F., Acosta, R., Addleman, N. J., Adrian, J., Afzal, V., Ai, R., Aken, B., Akiyama, J. A., Jammal, O. A., et al. (2020) · Nature

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 2,378

Personal omics profiling reveals dynamic molecular and medical phenotypes

Chen, R., Mias, G. I., Li-Pook-Than, J., Jiang, L., Lam, H. Y. K., Chen, R., Miriami, E., Karczewski, K. J., Hariharan, M., Dewey, F. E., et al. (2012) · Cell

Bioinformatics and Genomic NetworksHealth, Environment, Cognitive Aging

Cited by 1,291

The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., et al. (2009) · Proceedings of the National Academy of Sciences

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 399

Extensive Variation in Chromatin States Across Humans

Kasowski, M., Kyriazopoulou-Panagiotopoulou, S., Grubert, F., Zaugg, J. B., Kundaje, A., Liu, Y., Boyle, A. P., Zhang, Q. C., Zakharia, F., Spacek, D. V., et al. (2013) · Science

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 339

Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions

Grubert, F., Zaugg, J. B., Kasowski, M., Ursu, O., Spacek, D. V., Martin, A. R., Greenside, P., Srivas, R., Phanstiel, D. H., Pekowska, A., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 319

Genome-wide map of regulatory interactions in the human genome

Heidari, N., Phanstiel, D. H., He, C., Grubert, F., Jahanbani, F., Kasowski, M., Zhang, M. Q., & Snyder, M. P. (2014) · Genome Research

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 278