Publications

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Author Title [ Year(Desc)]
Filters: Author is Castel, Stephane E  [Clear All Filters]
2017
Kim-Hellmuth, S. et al. Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. Nat Commun 8, 266 (2017).
Mohammadi, P., Castel, S. E., Brown, A. A. & Lappalainen, T. Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
2018
Castel, S. E. et al. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet 50, 1327-1334 (2018).
2019
Mohammadi, P. et al. Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science 366, 351-356 (2019).
2020
Kim-Hellmuth, S. et al. Cell type-specific genetic regulation of gene expression across human tissues. Science 369, (2020).
Oliva, M. et al. The impact of sex on gene expression across human tissues. Science 369, (2020).
Ferraro, N. M. et al. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Castel, S. E., Aguet, F., Mohammadi, P., Ardlie, K. G. & Lappalainen, T. A vast resource of allelic expression data spanning human tissues. Genome Biol 21, 234 (2020).