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Author: Marylyn D. Ritchie

Rankings

  • All-time downloads: 19,521 (rank: 12,118 (tie) )
  • Categories:
    • bioinformatics: 3,825 (rank: 4,115 (tie) )
    • epidemiology: 914 (rank: 13,208 (tie) )
    • gastroenterology: 331 (rank: 1,587 (tie) )
    • genetic and genomic medicine: 6,113 (rank: 262 )
    • genetics: 3,786 (rank: 5,119 )
    • genomics: 3,840 (rank: 7,306 (tie) )
    • infectious diseases: 712 (rank: 35,503 (tie) )

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Preprints

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

genetic and genomic medicine more details view paper
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Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

genomics more details view paper
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    • In genomics: 1,289
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eQTpLot: a user-friendly R package for the visualization and colocalization of eQTL and GWAS signals

bioinformatics more details view paper
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Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

genomics more details view paper
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Depression Linked to Frequent Emergency Department Use in Large 10-year Retrospective Analysis of an Integrated Health Care System

epidemiology more details view paper
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Tribe: The collaborative platform for reproducible web-based analysis of gene sets

bioinformatics more details view paper
  • Downloaded 807 times
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    • In bioinformatics: 4,167
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Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease

genomics more details view paper
  • Downloaded 752 times
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    • In genomics: 3,412
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Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study

genetics more details view paper
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Targeting the Coronavirus Nucleocapsid Protein through GSK-3 Inhibition

infectious diseases more details view paper
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    • In infectious diseases: 3,196
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Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

genetics more details view paper
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    • Site-wide: 52,687
    • In genetics: 2,249
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Discovering patterns of pleiotropy in genome-wide association studies

genetics more details view paper
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    • In genetics: 2,268
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Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

genetics more details view paper
  • Downloaded 614 times
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    • Site-wide: 57,059
    • In genetics: 2,417
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Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19

genetic and genomic medicine more details view paper
  • Downloaded 593 times
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    • Site-wide: 59,529
    • In genetic and genomic medicine: 282
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Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

genetics more details view paper
  • Downloaded 577 times
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    • Site-wide: 61,649
    • In genetics: 2,632
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Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data

genetics more details view paper
  • Downloaded 577 times
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    • Site-wide: 61,633
    • In genetics: 2,631
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    • Site-wide: 117,135
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Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

genetic and genomic medicine more details view paper
  • Downloaded 537 times
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    • Site-wide: 67,322
    • In genetic and genomic medicine: 323
  • Year to date:
    • Site-wide: 14,256
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    • Site-wide: 12,593

Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms

bioinformatics more details view paper
  • Downloaded 528 times
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    • Site-wide: 68,658
    • In bioinformatics: 6,511
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Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits

genetic and genomic medicine more details view paper
  • Downloaded 489 times
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    • Site-wide: 75,008
    • In genetic and genomic medicine: 367
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    • Site-wide: 58,407
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A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

bioinformatics more details view paper
  • Downloaded 485 times
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    • In bioinformatics: 6,978
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Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

genomics more details view paper
  • Downloaded 359 times
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    • Site-wide: 101,604
    • In genomics: 6,094
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Rapid Identification and Phenotyping of Nonalcoholic Fatty Liver Disease Patients Using an Automated Algorithmic Approach in Diverse, Urban Healthcare Systems

gastroenterology more details view paper
  • Downloaded 331 times
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    • Site-wide: 108,493
    • In gastroenterology: 140
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    • Site-wide: 30,251

Collective feature selection to identify crucial epistatic variants

bioinformatics more details view paper
  • Downloaded 318 times
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    • Site-wide: 111,790
    • In bioinformatics: 9,289
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Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci

genetic and genomic medicine more details view paper
  • Downloaded 311 times
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    • Site-wide: 113,500
    • In genetic and genomic medicine: 633
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Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

genetic and genomic medicine more details view paper
  • Downloaded 248 times
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    • Site-wide: 130,151
    • In genetic and genomic medicine: 758
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    • Site-wide: 44,204
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Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults

bioinformatics more details view paper
  • Downloaded 243 times
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    • Site-wide: 131,441
    • In bioinformatics: 10,411
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A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

genetic and genomic medicine more details view paper
  • Downloaded 199 times
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    • Site-wide: 142,409
    • In genetic and genomic medicine: 843
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ColocQuiaL: A QTL-GWAS colocalization pipeline

genetic and genomic medicine more details view paper
  • Downloaded 89 times
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    • In genetic and genomic medicine: 1,045
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Multi-ancestry gene-trait connection landscape using electronic health record (EHR) linked biobank data

genetic and genomic medicine more details view paper
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