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 Female.
Connection Strength

0.049
  1. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 05; 581(7809):434-443.
    View in: PubMed
    Score: 0.014
  2. A structural variation reference for medical and population genetics. Nature. 2020 05; 581(7809):444-451.
    View in: PubMed
    Score: 0.004
  3. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
    View in: PubMed
    Score: 0.004
  4. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 06; 26(6):869-877.
    View in: PubMed
    Score: 0.004
  5. Landscape of X chromosome inactivation across human tissues. Nature. 2017 10 11; 550(7675):244-248.
    View in: PubMed
    Score: 0.003
  6. 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: 0.003
  7. 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: 0.003
  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: 0.003
  9. Mendelian randomization of blood lipids for coronary heart disease. Eur Heart J. 2015 Mar 01; 36(9):539-50.
    View in: PubMed
    Score: 0.002
  10. Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Hum Mol Genet. 2014 May 01; 23(9):2498-510.
    View in: PubMed
    Score: 0.002
  11. Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine. PLoS One. 2013; 8(7):e68853.
    View in: PubMed
    Score: 0.002
  12. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell. 2012 Mar 16; 148(6):1293-307.
    View in: PubMed
    Score: 0.002
  13. 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: 0.002
  14. Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
    View in: PubMed
    Score: 0.002
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.