Kari Stefansson


Ontology type: schema:Person     


Person Info

NAME

Kari

SURNAME

Stefansson

Publications in SciGraph latest 50 shown

  • 2022-04-27 Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology in NATURE COMMUNICATIONS
  • 2022-04-08 Mapping genomic loci implicates genes and synaptic biology in schizophrenia in NATURE
  • 2022-03-24 A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome in NATURE COMMUNICATIONS
  • 2022-02-04 Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene in NATURE COMMUNICATIONS
  • 2022-02-03 Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles in NATURE GENETICS
  • 2022-02-02 Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology in NATURE COMMUNICATIONS
  • 2022-01-10 Functional dissection of inherited non-coding variation influencing multiple myeloma risk in NATURE COMMUNICATIONS
  • 2021-12-16 Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer in NATURE COMMUNICATIONS
  • 2021-12-09 The power of genetic diversity in genome-wide association studies of lipids in NATURE
  • 2021-12-02 Large-scale integration of the plasma proteome with genetics and disease in NATURE GENETICS
  • 2021-11-16 Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk in BLOOD CANCER JOURNAL
  • 2021-11-12 Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease in NATURE GENETICS
  • 2021-10-07 A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo in COMMUNICATIONS BIOLOGY
  • 2021-09-27 Genetic variants associated with platelet count are predictive of human disease and physiological markers in COMMUNICATIONS BIOLOGY
  • 2021-09-07 A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease in NATURE GENETICS
  • 2021-08-31 Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-08-04 Genetic insights into biological mechanisms governing human ovarian ageing in NATURE
  • 2021-07-23 Identification of 22 susceptibility loci associated with testicular germ cell tumors in NATURE COMMUNICATIONS
  • 2021-07-19 Distinction between the effects of parental and fetal genomes on fetal growth in NATURE GENETICS
  • 2021-06-18 Predicting the probability of death using proteomics in COMMUNICATIONS BIOLOGY
  • 2021-06-15 Molecular benchmarks of a SARS-CoV-2 epidemic in NATURE COMMUNICATIONS
  • 2021-06-09 The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis in COMMUNICATIONS BIOLOGY
  • 2021-06-02 Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor in COMMUNICATIONS BIOLOGY
  • 2021-05-17 Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology in NATURE GENETICS
  • 2021-05-17 The genetic structure of Norway in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-05-10 Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits in NATURE GENETICS
  • 2021-04-19 Germline variants at SOHLH2 influence multiple myeloma risk in BLOOD CANCER JOURNAL
  • 2021-04-12 HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry in TRANSLATIONAL PSYCHIATRY
  • 2021-04-06 Variable number tandem repeats mediate the expression of proximal genes in NATURE COMMUNICATIONS
  • 2021-03-22 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans in TRANSLATIONAL PSYCHIATRY
  • 2021-03-16 Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals in NATURE GENETICS
  • 2021-03-11 Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2021-02-18 A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy in SCIENTIFIC REPORTS
  • 2021-02-08 Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability in NATURE COMMUNICATIONS
  • 2021-02-01 PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes in NATURE COMMUNICATIONS
  • 2021-01-07 Differences between germline genomes of monozygotic twins in NATURE GENETICS
  • 2021-01-05 Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability in NATURE COMMUNICATIONS
  • 2020-11-25 Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women in NATURE COMMUNICATIONS
  • 2020-11-25 Large genome-wide association study identifies three novel risk variants for restless legs syndrome in COMMUNICATIONS BIOLOGY
  • 2020-11-23 Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals in NATURE GENETICS
  • 2020-10-23 MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk in NATURE COMMUNICATIONS
  • 2020-09-28 Genome-wide association study identifies 48 common genetic variants associated with handedness in NATURE HUMAN BEHAVIOUR
  • 2020-08-07 GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer in NATURE COMMUNICATIONS
  • 2020-06-24 FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease in NATURE
  • 2020-05-21 Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction in NATURE COMMUNICATIONS
  • 2020-04-23 Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis in COMMUNICATIONS BIOLOGY
  • 2020-04-22 The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes in NATURE
  • 2020-03-17 Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank in COMMUNICATIONS BIOLOGY
  • 2020-02-10 Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma in NATURE COMMUNICATIONS
  • 2020-02-06 Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk in NATURE GENETICS
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