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Author: Detelina Grozeva

  • Most recently observed institution: Cardiff University, Cardiff, UK

Rankings

  • All-time downloads: 4,484 (rank: 45,097 (tie) )
  • Categories:
    • genetic and genomic medicine: 1,084 (rank: 1,707 (tie) )
    • genetics: 670 (rank: 20,917 (tie) )
    • genomics: 2,730 (rank: 8,581 (tie) )

Downloads per author, site-wide

Preprints

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

genomics more details view paper
  • Downloaded 2,138 times
  • Download rankings, all-time:
    • Site-wide: 6,752
    • In genomics: 749
  • Year to date:
    • Site-wide: 89,235
  • Since beginning of last month:
    • Site-wide: 95,206

Exome sequencing identifies novel AD-associated genes.

genetic and genomic medicine more details view paper
  • Downloaded 1,084 times
  • Download rankings, all-time:
    • Site-wide: 18,606
    • In genetic and genomic medicine: 63
  • Year to date:
    • Site-wide: 10,658
  • Since beginning of last month:
    • Site-wide: 12,851

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: 42,960
    • In genomics: 3,509
  • Year to date:
    • Site-wide: 79,314
  • Since beginning of last month:
    • Site-wide: 79,015

Gene based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes for Alzheimer's Disease

genetics more details view paper
  • Downloaded 506 times
  • Download rankings, all-time:
    • Site-wide: 51,951
    • In genetics: 2,422
  • Year to date:
    • Site-wide: 120,465
  • Since beginning of last month:
    • Site-wide: 127,369

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

genetics more details view paper
  • Downloaded 164 times
  • Download rankings, all-time:
    • Site-wide: 114,705
    • In genetics: 4,961
  • Year to date:
    • Site-wide: 107,083
  • Since beginning of last month:
    • Site-wide: 99,438

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