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 Genetic Predisposition to Disease.
  1. 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: 0.049
  2. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.046
  3. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2018 05; 14(5):e1007329.
    View in: PubMed
    Score: 0.040
  4. Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11.
    View in: PubMed
    Score: 0.035
  5. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211.
    View in: PubMed
    Score: 0.010
  6. Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes. Nat Commun. 2017 08 29; 8(1):382.
    View in: PubMed
    Score: 0.009
  7. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr; 49(4):504-510.
    View in: PubMed
    Score: 0.009
  8. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016 Jan 20; 8(322):322ra9.
    View in: PubMed
    Score: 0.008
  9. Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration. J Lipid Res. 2015 Sep; 56(9):1781-6.
    View in: PubMed
    Score: 0.008
  10. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011 Sep; 7(9):e1002280.
    View in: PubMed
    Score: 0.006
Connection Strength

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