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Author: Jeffrey Staples

  • Most recently observed institution: Regeneron Genetics Center

Rankings

  • All-time downloads: 21,688 (rank: 12,853 )
  • Categories:
    • bioinformatics: 1,730 (rank: 10,956 (tie) )
    • genetic and genomic medicine: 1,344 (rank: 4,157 (tie) )
    • genetics: 1,146 (rank: 16,765 (tie) )
    • genomics: 16,947 (rank: 1,016 (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 14,507 times
  • Download rankings, all-time:
    • Site-wide: 796
    • In genomics: 34
  • Year to date:
    • Site-wide: 8,297
  • Since beginning of last month:
    • Site-wide: 6,680

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

genomics more details view paper
  • Downloaded 1,724 times
  • Download rankings, all-time:
    • Site-wide: 14,761
    • In genomics: 1,324
  • Year to date:
    • Site-wide: 117,438
  • Since beginning of last month:
    • Site-wide: 77,200

KaryoScan: abnormal karyotype detection from whole-exome sequence

bioinformatics more details view paper
  • Downloaded 1,479 times
  • Download rankings, all-time:
    • Site-wide: 18,626
    • In bioinformatics: 1,959
  • Year to date:
    • Site-wide: 105,030
  • Since beginning of last month:
    • Site-wide: 105,181

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

genetics more details view paper
  • Downloaded 1,161 times
  • Download rankings, all-time:
    • Site-wide: 27,173
    • In genetics: 1,066
  • Year to date:
    • Site-wide: 154,458
  • Since beginning of last month:
    • Site-wide: 160,466

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

genomics more details view paper
  • Downloaded 979 times
  • Download rankings, all-time:
    • Site-wide: 35,070
    • In genomics: 2,745
  • Year to date:
    • Site-wide: 153,720
  • Since beginning of last month:
    • Site-wide: 141,042

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

genetic and genomic medicine more details view paper
  • Downloaded 754 times
  • Download rankings, all-time:
    • Site-wide: 51,498
    • In genetic and genomic medicine: 314
  • Year to date:
    • Site-wide: 18,013
  • Since beginning of last month:
    • Site-wide: 20,396

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 413 times
  • Download rankings, all-time:
    • Site-wide: 107,035
    • In genetic and genomic medicine: 618
  • Year to date:
    • Site-wide: 90,428
  • Since beginning of last month:
    • Site-wide: 59,414

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 346 times
  • Download rankings, all-time:
    • Site-wide: 124,765
    • In genetic and genomic medicine: 717
  • Year to date:
    • Site-wide: 161,309
  • Since beginning of last month:
    • Site-wide: 168,332

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 325 times
  • Download rankings, all-time:
    • Site-wide: 130,602
    • In bioinformatics: 10,369
  • Year to date:
    • Site-wide: 95,969
  • Since beginning of last month:
    • Site-wide: 63,291

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