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Author: Kerrin S Small

Rankings

  • All-time downloads: 28,947 (rank: 9,841 (tie) )
  • Categories:
    • bioinformatics: 936 (rank: 22,187 (tie) )
    • genetic and genomic medicine: 2,744 (rank: 2,151 )
    • genetics: 14,150 (rank: 1,287 )
    • genomics: 9,501 (rank: 2,814 )
    • physiology: 258 (rank: 12,276 (tie) )
    • systems biology: 343 (rank: 14,822 (tie) )

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Preprints

Cell type specific genetic regulation of gene expression across human tissues

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Mapping eQTLs With RNA-Seq Reveals Novel SLE Susceptibility Genes, Non-Coding RNAs, and Alternative-Splicing Events That Are Concealed Using Microarrays

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

genetics more details view paper
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PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

genetics more details view paper
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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

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

genetics more details view paper
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Cell-type heterogeneity in adipose tissue is associated with complex traits and reveals disease-relevant cell-specific eQTLs

genomics more details view paper
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Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions

genomics more details view paper
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The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
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Age-dependent changes in mean and variance of gene expression across tissues in a twin cohort

genomics more details view paper
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ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

genetic and genomic medicine more details view paper
  • Downloaded 1,187 times
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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
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Genome-wide scan and fine-mapping of rare nonsynonymous associations implicates intracellular lipolysis genes in fat distribution and cardio-metabolic risk

genetics more details view paper
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    • Site-wide: 42,949
    • In genetics: 1,670
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Quantifying the degree of sharing of genetic and non-genetic causes of gene expression variability across four tissues.

genomics more details view paper
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    • In genomics: 3,604
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Exploratory analysis and error modeling of a sequencing technology

genomics more details view paper
  • Downloaded 739 times
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    • In genomics: 4,142
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Heritability of skewed X-inactivation in female twins is tissue-specific and dependent on age

genetics more details view paper
  • Downloaded 578 times
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    • Site-wide: 84,306
    • In genetics: 3,174
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Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

genomics more details view paper
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Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

bioinformatics more details view paper
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The origins and functional effects of postzygotic mutations throughout the human lifespan

genomics more details view paper
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ERASE: Extended Randomization for assessment of annotation enrichment in ASE datasets

bioinformatics more details view paper
  • Downloaded 451 times
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    • In bioinformatics: 9,175
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Identification of rare loss of function variation regulating body fat distribution

genetic and genomic medicine more details view paper
  • Downloaded 440 times
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    • Site-wide: 114,318
    • In genetic and genomic medicine: 718
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Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

genetics more details view paper
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    • In genetics: 5,186
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Introducing ExHiBITT – Exploring Host microbiome inTeractions in Twins-, a colon multiomic cohort study

systems biology more details view paper
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Endogenous GDF15 and FGF21 additively alleviate hepatic steatosis and insulin resistance in obese mice.

physiology more details view paper
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    • In physiology: 1,687
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Age acquired skewed X Chromosome Inactivation is associated with adverse health outcomes in humans

genetic and genomic medicine more details view paper
  • Downloaded 223 times
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Analysis of nucleus and cytoplasm-specific RNA fractions demonstrates that a significant proportion of the genetic regulation of gene expression across the human brain occurs post-transcriptionally

genomics more details view paper
  • Downloaded 201 times
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