Analysis of protein-coding genetic variation in 60,706 humansMonkol Lek, David Altshuler, Konrad J. Karczewski et al.|Nature|2016Cited by 10.3k
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Jessica Alföldi et al.|Nature|2020Cited by 10.2k
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Laurent C. Francioli et al.|bioRxiv (Cold Spring Harbor Laboratory)|2019Cited by 1.8k
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statisticsAlvaro Barbeira, Eleazar Eskin, Scott Dickinson et al.|Nature Communications|2018Cited by 1.2k
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Daniel G. MacArthur, Alexandra–Chloé Villani et al.|Nature|2017Cited by 1.2k