Kari Stefansson


Ontology type: schema:Person     


Person Info

NAME

Kari

SURNAME

Stefansson

Publications in SciGraph latest 50 shown

  • 2019-12 Shared heritability and functional enrichment across six solid cancers in NATURE COMMUNICATIONS
  • 2019-12 Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma in NATURE COMMUNICATIONS
  • 2019-03 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk in NATURE GENETICS
  • 2019-02 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use in NATURE GENETICS
  • 2019-02 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis in NATURE GENETICS
  • 2019-01 Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder in NATURE GENETICS
  • 2018-12 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA in NATURE COMMUNICATIONS
  • 2018-12 A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease in NATURE COMMUNICATIONS
  • 2018-12 Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes in NATURE COMMUNICATIONS
  • 2018-12 Genome-wide analysis yields new loci associating with aortic valve stenosis in NATURE COMMUNICATIONS
  • 2018-12 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease in NATURE COMMUNICATIONS
  • 2018-12 A rare missense variant in NR1H4 associates with lower cholesterol levels in COMMUNICATIONS BIOLOGY
  • 2018-12 Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 in GENOME BIOLOGY
  • 2018-12 A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin in COMMUNICATIONS BIOLOGY
  • 2018-12 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity in NATURE COMMUNICATIONS
  • 2018-12 MAP1B mutations cause intellectual disability and extensive white matter deficit in NATURE COMMUNICATIONS
  • 2018-12 Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma in NATURE COMMUNICATIONS
  • 2018-12 Meta-analysis of Alzheimer’s disease on 9,751 samples from Norway and IGAP study identifies four risk loci in SCIENTIFIC REPORTS
  • 2018-11-05 Multiple transmissions of de novo mutations in families in NATURE GENETICS
  • 2018-11 Author Correction: The rate of meiotic gene conversion varies by sex and age in NATURE GENETICS
  • 2018-10-03 Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia in MOLECULAR PSYCHIATRY
  • 2018-09 Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence in MOLECULAR PSYCHIATRY
  • 2018-09 Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition in NATURE GENETICS
  • 2018-09 Relatedness disequilibrium regression estimates heritability without environmental bias in NATURE GENETICS
  • 2018-05 Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2018-05 Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2018-05 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression in NATURE GENETICS
  • 2018-04 Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition in NATURE GENETICS
  • 2018-04 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes in NATURE GENETICS
  • 2018-04 Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis in NATURE GENETICS
  • 2018-03 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection in NATURE GENETICS
  • 2018-02 Reconstructing an African haploid genome from the 18th century in NATURE GENETICS
  • 2018-01 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2018-01 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks in NATURE GENETICS
  • 2017-12 Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations in NPJ GENOMIC MEDICINE
  • 2017-12 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass in NATURE COMMUNICATIONS
  • 2017-12 Sequence variant at 4q25 near PITX2 associates with appendicitis in SCIENTIFIC REPORTS
  • 2017-12 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters in BMC MEDICAL GENETICS
  • 2017-12 Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass in NATURE COMMUNICATIONS
  • 2017-12 COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA in BMC MEDICAL GENETICS
  • 2017-12 Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry in SCIENTIFIC REPORTS
  • 2017-11 Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits in NATURE GENETICS
  • 2017-11 Graphtyper enables population-scale genotyping using pangenome graphs in NATURE GENETICS
  • 2017-09 Parental influence on human germline de novo mutations in 1,548 trios from Iceland in NATURE
  • 2017-09 Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability in NATURE GENETICS
  • 2017-08 Truncating mutations in RBM12 are associated with psychosis in NATURE GENETICS
  • 2017-08 Identification of sequence variants influencing immunoglobulin levels in NATURE GENETICS
  • 2017-07-12 Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness in NATURE COMMUNICATIONS
  • 2017-07 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes in NATURE GENETICS
  • 2017-07 Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci in NATURE GENETICS
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