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 Phenotype.
Connection Strength

0.224
  1. Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders. J Thromb Haemost. 2021 01; 19(1):248-254.
    View in: PubMed
    Score: 0.064
  2. 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: 0.050
  3. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 06; 26(6):869-877.
    View in: PubMed
    Score: 0.016
  4. 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: 0.014
  5. Landscape of X chromosome inactivation across human tissues. Nature. 2017 10 11; 550(7675):244-248.
    View in: PubMed
    Score: 0.013
  6. 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: 0.012
  7. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016 08 18; 536(7616):285-91.
    View in: PubMed
    Score: 0.012
  8. Health and population effects of rare gene knockouts in adult humans with related parents. Science. 2016 Apr 22; 352(6284):474-7.
    View in: PubMed
    Score: 0.012
  9. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015 May 08; 348(6235):666-9.
    View in: PubMed
    Score: 0.011
  10. 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: 0.010
  11. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet. 2014 Mar 06; 94(3):349-60.
    View in: PubMed
    Score: 0.010
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.