The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Laurent C. Francioli 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
Transcript expression-aware annotation improves rare variant interpretationBeryl B. Cummings, Molly Schleicher, Konrad J. Karczewski et al.|Nature|2020Cited by 202
Genome Sequencing for Diagnosing Rare DiseasesMonica H. Wojcik, Daniel G. MacArthur, Hana Snow et al.|New England Journal of Medicine|2024Cited by 186
The landscape of tolerated genetic variation in humans and primatesHong Gao, Mihir Trivedi, Tobias Hamp et al.|Science|2023Cited by 177