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Author: Jeffrey Staples

  • Most recently observed institution: Regeneron Genetics Center, Tarrytown, New York, USA 10591

Rankings

  • All-time downloads: 19,495 (rank: 10,715 (tie) )
  • Categories:
    • bioinformatics: 1,583 (rank: 10,343 (tie) )
    • genetic and genomic medicine: 464 (rank: 6,707 (tie) )
    • genetics: 1,081 (rank: 15,685 (tie) )
    • genomics: 16,367 (rank: 958 (tie) )

Downloads per author, site-wide

Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

genomics more details view paper
  • Downloaded 13,838 times
  • Download rankings, all-time:
    • Site-wide: 628
    • In genomics: 33
  • Year to date:
    • Site-wide: 2,808
  • Since beginning of last month:
    • Site-wide: 1,604

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

genomics more details view paper
  • Downloaded 1,605 times
  • Download rankings, all-time:
    • Site-wide: 12,277
    • In genomics: 1,261
  • Year to date:
    • Site-wide: 84,531
  • Since beginning of last month:
    • Site-wide: 85,157

KaryoScan: abnormal karyotype detection from whole-exome sequence

bioinformatics more details view paper
  • Downloaded 1,362 times
  • Download rankings, all-time:
    • Site-wide: 15,708
    • In bioinformatics: 1,824
  • Year to date:
    • Site-wide: 42,348
  • Since beginning of last month:
    • Site-wide: None

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

genetics more details view paper
  • Downloaded 1,081 times
  • Download rankings, all-time:
    • Site-wide: 22,127
    • In genetics: 1,011
  • Year to date:
    • Site-wide: 56,995
  • Since beginning of last month:
    • Site-wide: None

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

genomics more details view paper
  • Downloaded 924 times
  • Download rankings, all-time:
    • Site-wide: 27,807
    • In genomics: 2,511
  • Year to date:
    • Site-wide: 100,462
  • Since beginning of last month:
    • Site-wide: None

Genome-wide survey of parent-of-origin specific associations across clinical traits derived from electronic health records

genetic and genomic medicine more details view paper
  • Downloaded 258 times
  • Download rankings, all-time:
    • Site-wide: 109,313
    • In genetic and genomic medicine: 543
  • Year to date:
    • Site-wide: 53,497
  • Since beginning of last month:
    • Site-wide: 64,758

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 221 times
  • Download rankings, all-time:
    • Site-wide: 118,608
    • In bioinformatics: 9,683
  • Year to date:
    • Site-wide: 80,272
  • Since beginning of last month:
    • Site-wide: 129,330

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

genetic and genomic medicine more details view paper
  • Downloaded 206 times
  • Download rankings, all-time:
    • Site-wide: 122,481
    • In genetic and genomic medicine: 647
  • Year to date:
    • Site-wide: 31,304
  • Since beginning of last month:
    • Site-wide: 16,784

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