Konrad J. Karczewski

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Rare Coding Variants Reveal Distinct Genetic Architectures Across Multidimensional Sleep Phenotypes

  medRxiv · 2026-06-18

• Mechanism of age-related accumulation of mtDNA mutations in human blood

  Nature · 2026-05-27

• Systematic common and rare variant association testing in 392,030 whole genomes in <i>All of Us</i>

  medRxiv · 2026-05-12

• Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases

  The American Journal of Human Genetics · 2026-05-01

• Identification of genetic risk loci associated with aquaporin 4-positive neuromyelitis optica spectrum disorder: a genome-wide association study

  The Lancet Neurology · 2026-04-17 · 3 citations

• Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk

  Nature Genetics · 2026-02-26

• Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation

  Science · 2026-02-12 · 6 citations

• Rare coding variants in ten genes confer substantial risk for schizophrenia

  UNC Libraries · 2026-02-10

• Widespread naturally variable human exons aid genetic interpretation

  Nature Communications · 2025-12-16

• The <i>9p21.3</i> Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of <i>MTAP</i>Preprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-11-18

• Data from Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer

  2025-11-03

• Supplementary Data 1 from Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer

  2025-11-03

• Supplementary Data 2 from Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer

  2025-11-03

• Improved allele frequencies in gnomAD through local ancestry inference

  Nature Communications · 2025-10-06 · 9 citations

• Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects

  Nature Genetics · 2025-09-18 · 63 citations

• Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer

  Clinical Cancer Research · 2025-08-15 · 1 citations

• Mechanism of age-related accumulation of mitochondrial DNA mutations in human bloodPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-05-28 · 2 citations

• Author Correction: The effect of LRRK2 loss-of-function variants in humans

  UNC Libraries · 2025-05-14

• The effect of LRRK2 loss-of-function variants in humans

  UNC Libraries · 2025-05-14

• Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses

  Nature Protocols · 2025-03-28 · 5 citations