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Author: Giuseppe Gallone

Rankings

  • All-time downloads: 10,199 (rank: 16,397 (tie) )
  • Categories:
    • genetic and genomic medicine: 788 (rank: 1,839 (tie) )
    • genetics: 8,274 (rank: 2,065 (tie) )
    • genomics: 1,137 (rank: 18,502 (tie) )

Downloads per author, site-wide

Preprints

De novo mutations in regulatory elements cause neurodevelopmental disorders

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  • Downloaded 2,093 times
  • Download rankings, all-time:
    • Site-wide: 6,125
    • In genetics: 308
  • Year to date:
    • Site-wide: 55,791
  • Since beginning of last month:
    • Site-wide: 119,133

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,864 times
  • Download rankings, all-time:
    • Site-wide: 7,254
    • In genetics: 356
  • Year to date:
    • Site-wide: 46,262
  • Since beginning of last month:
    • Site-wide: 73,895

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

genetics more details view paper
  • Downloaded 1,862 times
  • Download rankings, all-time:
    • Site-wide: 7,261
    • In genetics: 357
  • Year to date:
    • Site-wide: 65,955
  • Since beginning of last month:
    • Site-wide: 55,953

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,488 times
  • Download rankings, all-time:
    • Site-wide: 10,192
    • In genetics: 511
  • Year to date:
    • Site-wide: 75,578
  • Since beginning of last month:
    • Site-wide: 62,573

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

genomics more details view paper
  • Downloaded 1,137 times
  • Download rankings, all-time:
    • Site-wide: 15,254
    • In genomics: 1,657
  • Year to date:
    • Site-wide: 36,546
  • Since beginning of last month:
    • Site-wide: 49,632

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 776 times
  • Download rankings, all-time:
    • Site-wide: 26,651
    • In genetics: 1,348
  • Year to date:
    • Site-wide: 116,886
  • Since beginning of last month:
    • Site-wide: 66,100

The contribution of X-linked coding variation to severe developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 564 times
  • Download rankings, all-time:
    • Site-wide: 40,593
    • In genetic and genomic medicine: 104
  • Year to date:
    • Site-wide: 27,741
  • Since beginning of last month:
    • Site-wide: 20,873

InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

genetic and genomic medicine more details view paper
  • Downloaded 224 times
  • Download rankings, all-time:
    • Site-wide: 92,193
    • In genetic and genomic medicine: 301
  • Year to date:
    • Site-wide: 30,603
  • Since beginning of last month:
    • Site-wide: 26,483

TADA - a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs

genetics more details view paper
  • Downloaded 191 times
  • Download rankings, all-time:
    • Site-wide: 99,358
    • In genetics: 4,516
  • Year to date:
    • Site-wide: 16,693
  • Since beginning of last month:
    • Site-wide: 27,247

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