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Author: Karen L. Mohlke

Rankings

  • All-time downloads: 34,143 (rank: 4,898 )
  • Categories:
    • genetic and genomic medicine: 5,276 (rank: 157 )
    • genetics: 23,429 (rank: 369 )
    • genomics: 5,438 (rank: 4,395 )

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Preprints

A reference panel of 64,976 haplotypes for genotype imputation

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Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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The Polygenic and Monogenic Basis of Blood Traits and Diseases

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

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Identification of type 2 diabetes loci in 433,540 East Asian individuals

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

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Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

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Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes

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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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    • Site-wide: 13,442
    • In genetics: 630
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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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Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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    • Site-wide: 18,699
    • In genetics: 889
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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    • In genetics: 1,163
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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    • Site-wide: 27,801
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Epigenome-wide association in adipose tissue from the METSIM cohort

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    • Site-wide: 28,227
    • In genetics: 1,328
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ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

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HUGIn: Hi-C Unifying Genomic Interrogator

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Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

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    • Site-wide: 36,847
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Multi-SNP Mediation Intersection-Union Test

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    • In genetics: 1,917
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    • Site-wide: 78,465
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    • Site-wide: 91,380

Assessing exposure effects on gene expression

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    • In genomics: 3,974
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Content and performance of the MiniMUGA genotyping array, a new tool to improve rigor and reproducibility in mouse research

genetics more details view paper
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    • In genetics: 3,311
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Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

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    • Site-wide: 86,366
    • In genetic and genomic medicine: 347
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