Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Konrad Jan Karczewski, Ph.D.

Concepts

This page shows the publications Konrad Karczewski has written about Cohort Studies.
Connection Strength

0.090
  1. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.045
  2. 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.
    View in: PubMed
    Score: 0.012
  3. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature. 2017 04 12; 544(7649):235-239.
    View in: PubMed
    Score: 0.009
  4. Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects. Nat Commun. 2016 10 31; 7:13293.
    View in: PubMed
    Score: 0.009
  5. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
    View in: PubMed
    Score: 0.008
  6. Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood. 2014 Oct 02; 124(14):2298-305.
    View in: PubMed
    Score: 0.007
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.