The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J. Karczewski, Christopher Llanwarne, Laura D. Gauthier 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
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Heidi Cope, Wan Hee Yoon et al.|The American Journal of Human Genetics|2018Cited by 107
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Diane Kaplan, Konrad J. Karczewski et al.|Nature|2021Cited by 65
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomesJulia K. Goodrich, Craig L. Hanis, Moriel Singer‐Berk et al.|Carolina Digital Repository (University of North Carolina at Chapel Hill)|2021Cited by 0