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Author: Jana Vandrovcova

  • Most recently observed institution: UCL

Rankings

  • All-time downloads: 2,981 (rank: 80,669 (tie) )
  • Categories:
    • bioinformatics: 431 (rank: 29,828 (tie) )
    • genetics: 925 (rank: 17,475 (tie) )
    • genomics: 1,009 (rank: 23,887 (tie) )
    • neurology: 182 (rank: 5,818 (tie) )
    • neuroscience: 434 (rank: 53,581 (tie) )

Downloads per author, site-wide

Preprints

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 1,009 times
  • Download rankings, all-time:
    • Site-wide: 24,072
    • In genomics: 2,266
  • Year to date:
    • Site-wide: 9,040
  • Since beginning of last month:
    • Site-wide: 20,683

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

genetics more details view paper
  • Downloaded 496 times
  • Download rankings, all-time:
    • Site-wide: 61,688
    • In genetics: 2,727
  • Year to date:
    • Site-wide: 101,329
  • Since beginning of last month:
    • Site-wide: 90,498

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

neuroscience more details view paper
  • Downloaded 434 times
  • Download rankings, all-time:
    • Site-wide: 71,110
    • In neuroscience: 10,619
  • Year to date:
    • Site-wide: 67,186
  • Since beginning of last month:
    • Site-wide: 4,460

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

bioinformatics more details view paper
  • Downloaded 431 times
  • Download rankings, all-time:
    • Site-wide: 71,530
    • In bioinformatics: 6,786
  • Year to date:
    • Site-wide: 123,503
  • Since beginning of last month:
    • Site-wide: 84,403

Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

genetics more details view paper
  • Downloaded 429 times
  • Download rankings, all-time:
    • Site-wide: 71,906
    • In genetics: 3,162
  • Year to date:
    • Site-wide: 58,484
  • Since beginning of last month:
    • Site-wide: 94,691

DEFINING CANDIDATE PARKINSONS DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

neurology more details view paper
  • Downloaded 182 times
  • Download rankings, all-time:
    • Site-wide: 126,294
    • In neurology: 518
  • Year to date:
    • Site-wide: 88,464
  • Since beginning of last month:
    • Site-wide: 16,568

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