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Author: Sofia Douzgou

  • Most recently observed institution: Manchester Centre for Genomic Medicine, St Marys Hospital, Manchester University NHS Foundation Tru

Rankings

  • All-time downloads: 10,518 (rank: 13,145 (tie) out of 499,599)
  • Categories:
    • bioinformatics: 654 (rank: 17,947 (tie) out of 36,834)
    • genetics: 9,864 (rank: 1,509 out of 38,574)

Downloads per author, site-wide

Preprints

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

genetics more details view paper
  • Downloaded 7,329 times
  • Download rankings, all-time:
    • Site-wide: 876 out of 116,133
    • In genetics: 34 out of 5,126
  • Year to date:
    • Site-wide: 19,867 out of 116,133
  • Since beginning of last month:
    • Site-wide: 23,496 out of 116,133

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,469 times
  • Download rankings, all-time:
    • Site-wide: 9,152 out of 116,133
    • In genetics: 496 out of 5,126
  • Year to date:
    • Site-wide: 32,731 out of 116,133
  • Since beginning of last month:
    • Site-wide: 22,297 out of 116,133

PEDIA: Prioritization of Exome Data by Image Analysis

bioinformatics more details view paper
  • Downloaded 654 times
  • Download rankings, all-time:
    • Site-wide: 30,088 out of 116,133
    • In bioinformatics: 3,603 out of 9,552
  • Year to date:
    • Site-wide: 73,759 out of 116,133
  • Since beginning of last month:
    • Site-wide: 101,767 out of 116,133

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

genetics more details view paper
  • Downloaded 508 times
  • Download rankings, all-time:
    • Site-wide: 41,372 out of 116,133
    • In genetics: 2,130 out of 5,126
  • Year to date:
    • Site-wide: 28,953 out of 116,133
  • Since beginning of last month:
    • Site-wide: 26,593 out of 116,133

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

genetics more details view paper
  • Downloaded 395 times
  • Download rankings, all-time:
    • Site-wide: 54,284 out of 116,133
    • In genetics: 2,755 out of 5,126
  • Year to date:
    • Site-wide: 60,165 out of 116,133
  • Since beginning of last month:
    • Site-wide: 52,013 out of 116,133

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

genetics more details view paper
  • Downloaded 163 times
  • Download rankings, all-time:
    • Site-wide: 94,311 out of 116,133
    • In genetics: 4,517 out of 5,126
  • Year to date:
    • Site-wide: 48,903 out of 116,133
  • Since beginning of last month:
    • Site-wide: 62,400 out of 116,133

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