Author: Joanna Kaplanis

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Preprints

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

• 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

• 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

• 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

• 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

• 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

• Downloaded 1,497 times
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  • 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

• 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

• 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

• 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

• 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