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Author: Kari Stefansson

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    • bioinformatics: 1,430 (rank: 7,877 (tie) out of 32,785)
    • genetics: 44,135 (rank: 84 out of 35,377)
    • genomics: 2,731 (rank: 7,021 (tie) out of 40,806)
    • neuroscience: 837 (rank: 19,445 (tie) out of 64,259)

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Preprints

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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The nature of nurture: effects of parental genotypes

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Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease

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

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

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Estimating heritability without environmental bias

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Genome-wide association study identifies 48 common genetic variants associated with handedness

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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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Graphtyper: Population-scale genotyping using pangenome graphs

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

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The genetic architecture of osteoarthritis: insights from UK Biobank

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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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Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

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Deep learning based brain age prediction uncovers associated sequence variants

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CCR5-del32 is not deleterious in the homozygous state in humans

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

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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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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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Variable Number Tandem Repeats mediate the expression of proximal genes

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