Smith, Kevin S.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

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A Quantitative Proteome Map of the Human Body

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

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Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

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Glycogen synthase kinase 3 in MLL leukaemia maintenance and targeted therapy

Wang, Z., Smith, K. S., Murphy, M., Piloto, O., Somervaille, T. C. P., & Cleary, M. L. (2008) · Nature

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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications

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MLL leukemia induction by genome editing of human CD34+ hematopoietic cells

Buechele, C., Breese, E. H., Schneidawind, D., Lin, C.-H., Jeong, J., Duque-Afonso, J., Wong, S. H. K., Smith, K. S., Negrin, R. S., Porteus, M., et al. (2015) · Blood

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

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