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Author: Joanna Kaplanis

Rankings

  • All-time downloads: 41,938 (rank: 5,702 )
  • Categories:
    • genetic and genomic medicine: 1,873 (rank: 2,888 )
    • genetics: 9,669 (rank: 2,084 (tie) )
    • genomics: 29,785 (rank: 421 )

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Preprints

Quantitative analysis of population-scale family trees using millions of relatives

genomics more details view paper
  • Downloaded 20,394 times
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    • Site-wide: 514
    • In genomics: 17
  • Year to date:
    • Site-wide: 13,261
  • Since beginning of last month:
    • Site-wide: 12,853

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

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  • Downloaded 7,735 times
  • Download rankings, all-time:
    • Site-wide: 1,717
    • In genetics: 39
  • Year to date:
    • Site-wide: 45,339
  • Since beginning of last month:
    • Site-wide: 28,743

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

genomics more details view paper
  • Downloaded 4,389 times
  • Download rankings, all-time:
    • Site-wide: 3,682
    • In genomics: 338
  • Year to date:
    • Site-wide: 31,458
  • Since beginning of last month:
    • Site-wide: 45,066

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,993 times
  • Download rankings, all-time:
    • Site-wide: 11,521
    • In genetics: 437
  • Year to date:
    • Site-wide: 98,851
  • Since beginning of last month:
    • Site-wide: 147,743

Genetic and chemotherapeutic causes of germline hypermutation

genomics more details view paper
  • Downloaded 1,608 times
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    • Site-wide: 15,820
    • In genomics: 1,609
  • Year to date:
    • Site-wide: 9,652
  • Since beginning of last month:
    • Site-wide: 8,893

Striking differences in patterns of germline mutation between mice and humans

genomics more details view paper
  • Downloaded 1,497 times
  • Download rankings, all-time:
    • Site-wide: 17,661
    • In genomics: 1,588
  • Year to date:
    • Site-wide: 130,729
  • Since beginning of last month:
    • Site-wide: 125,425

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

genomics more details view paper
  • Downloaded 1,292 times
  • Download rankings, all-time:
    • Site-wide: 22,109
    • In genomics: 1,912
  • Year to date:
    • Site-wide: 103,182
  • Since beginning of last month:
    • Site-wide: 156,633

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 1,163 times
  • Download rankings, all-time:
    • Site-wide: 26,017
    • In genetic and genomic medicine: 138
  • Year to date:
    • Site-wide: 43,923
  • Since beginning of last month:
    • Site-wide: 27,365

Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation

genomics more details view paper
  • Downloaded 1,106 times
  • Download rankings, all-time:
    • Site-wide: 28,096
    • In genomics: 2,870
  • Year to date:
    • Site-wide: 4,683
  • Since beginning of last month:
    • Site-wide: 5,841

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

genetic and genomic medicine more details view paper
  • Downloaded 761 times
  • Download rankings, all-time:
    • Site-wide: 48,627
    • In genetic and genomic medicine: 244
  • Year to date:
    • Site-wide: 93,031
  • Since beginning of last month:
    • Site-wide: 78,101

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