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Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord 36, 514-518 (2021).
Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell 182, 145-161.e23 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).