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Author: Stephen Abbs

  • Most recently observed institution: East Midlands and East of England Genomic Laboratory Hub

Rankings

  • All-time downloads: 1,848 (rank: 108,708 (tie) )
  • Categories:
    • genetics: 517 (rank: 24,685 (tie) )
    • genomics: 1,331 (rank: 17,183 (tie) )

Downloads per author, site-wide

Preprints

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 32,076
    • In genomics: 2,848
  • Year to date:
    • Site-wide: 9,805
  • Since beginning of last month:
    • Site-wide: 16,214

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

genomics more details view paper
  • Downloaded 592 times
  • Download rankings, all-time:
    • Site-wide: 42,902
    • In genomics: 3,499
  • Year to date:
    • Site-wide: 77,935
  • Since beginning of last month:
    • Site-wide: 74,973

Diagnostic high-throughput sequencing of 2,390 patients with bleeding, thrombotic and platelet disorders

genetics more details view paper
  • Downloaded 517 times
  • Download rankings, all-time:
    • Site-wide: 50,535
    • In genetics: 2,359
  • Year to date:
    • Site-wide: 88,004
  • Since beginning of last month:
    • Site-wide: 82,159

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