Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about DNA Copy Number Variations.
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet. 2016 10; 48(10):1107-11.
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.
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Med. 2015 Oct 01; 7:90.
Variation in transcription factor binding among humans. Science. 2010 Apr 09; 328(5975):232-5.
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