Author: Kari Stefansson

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Preprints

Genetic insights into the biological mechanisms governing human ovarian ageing

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Early Spread of SARS-Cov-2 in the Icelandic Population

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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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Common risk variants identified in autism spectrum disorder

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Genomewide association study identifies 30 loci associated with bipolar disorder

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  • Site-wide: 1,070
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Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

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Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

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The nature of nurture: effects of parental genotypes

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Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

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  • Site-wide: 3,228
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Estimating heritability without environmental bias

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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

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  • Site-wide: 4,735
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Recurrence of de novo mutations in families

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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

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Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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Largest GWAS (N=1,126,563) of Alzheimer's Disease Implicates Microglia and Immune Cells

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  • In genetic and genomic medicine: 32
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Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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Genome-wide association study of over 40,000 bipolar disorder cases provides novel biological insights

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  • Site-wide: 12,215
  • In psychiatry and clinical psychology: 35
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The genetic architecture of osteoarthritis: insights from UK Biobank

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  • Site-wide: 12,405
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  • Site-wide: 116,958
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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

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  • Site-wide: 13,680
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  • Site-wide: 58,778
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Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

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Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

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  • Site-wide: 23,326
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Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

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  • In genomics: 3,148
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Discovering patterns of pleiotropy in genome-wide association studies

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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

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Genome-wide analysis yields new loci associating with aortic valve stenosis

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Shared heritability and functional enrichment across six solid cancers

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A rare missense mutation in MYH6 confers high risk of coarctation of the aorta

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Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

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Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

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