Chao, Katherine R.

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

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