Konrad J. Karczewski

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Annotation of functional variation in personal genomes using RegulomeDB

Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham, Anshul Kundaje, Shelley Force Aldred et al. · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · 2012 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17