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Author: Heather Mason-Suares

Rankings

  • All-time downloads: 3,076 (rank: 90,748 (tie) )
  • Categories:
    • genetic and genomic medicine: 295 (rank: 11,490 (tie) )
    • genetics: 2,136 (rank: 9,544 (tie) )
    • genomics: 645 (rank: 35,139 (tie) )

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Preprints

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

genetics more details view paper
  • Downloaded 1,152 times
  • Download rankings, all-time:
    • Site-wide: 23,082
    • In genetics: 1,010
  • Year to date:
    • Site-wide: 107,362
  • Since beginning of last month:
    • Site-wide: 77,138

Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk

genetics more details view paper
  • Downloaded 984 times
  • Download rankings, all-time:
    • Site-wide: 29,310
    • In genetics: 1,290
  • Year to date:
    • Site-wide: 78,444
  • Since beginning of last month:
    • Site-wide: 136,608

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

genomics more details view paper
  • Downloaded 645 times
  • Download rankings, all-time:
    • Site-wide: 53,566
    • In genomics: 4,009
  • Year to date:
    • Site-wide: 163,530
  • Since beginning of last month:
    • Site-wide: 161,466

A Framework for Automated Gene Selection in Genomic Screening

genetic and genomic medicine more details view paper
  • Downloaded 295 times
  • Download rankings, all-time:
    • Site-wide: 118,144
    • In genetic and genomic medicine: 666
  • Year to date:
    • Site-wide: 63,603
  • Since beginning of last month:
    • Site-wide: 44,748

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