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 Haploinsufficiency.
Connection Strength

  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: 0.196
  2. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
    View in: PubMed
    Score: 0.190
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.