Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Promoter Regions, Genetic  [Clear All Filters]
2021
Chen, L. et al. Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Ushiki, A. et al. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun 12, 2282 (2021).
2020
Oliva, M. et al. The impact of sex on gene expression across human tissues. Science 369, (2020).
2017
Edvardson, S. et al. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet 101, 267-273 (2017).
2013
Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220-3 (2013).