Harvard Catalyst Profiles

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

Konrad Jan Karczewski, Ph.D.


This page shows the publications Konrad Karczewski has written about DNA Copy Number Variations.
Connection Strength

  1. 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: 0.092
  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: 0.032
  3. Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Med. 2015 Oct 01; 7:90.
    View in: PubMed
    Score: 0.022
  4. Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
    View in: PubMed
    Score: 0.015
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.