Konrad J. Karczewski
Broad Institute(US)Harvard University(US)Foundation Center(US)Massachusetts General Hospital(US)Novo Nordisk (United States)(US)Center for Genomic Science(IT)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, Genomics and Phylogenetic Studies, Genomics and Chromatin Dynamics
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,854 cited
- → Annotation of functional variation in personal genomes using RegulomeDB(2012)2,812 cited
- → Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes(2012)1,295 cited
- → Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics(2018)1,189 cited
- → Landscape of X chromosome inactivation across human tissues(2017)1,188 cited