Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Cohort Studies.
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. Am J Hum Genet. 2021 06 03; 108(6):1083-1094.
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239.
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood. 2014 Oct 02; 124(14):2298-305.
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