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Author: Rolph Pfundt

  • Most recently observed institution: Radboud University Medical Center

Rankings

  • All-time downloads: 6,102 (rank: 14,791 (tie) out of 382,605)
  • Categories:
    • genetics: 1,614 (rank: 9,034 (tie) out of 35,298)
    • genomics: 4,488 (rank: 4,122 (tie) out of 40,766)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 2,533 times
  • Download rankings, all-time:
    • Site-wide: 2,460 out of 89,267
    • In genomics: 469 out of 5,695
  • Year to date:
    • Site-wide: 1,174 out of 89,267
  • Since beginning of last month:
    • Site-wide: 1,188 out of 89,267

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

genomics more details view paper
  • Downloaded 1,032 times
  • Download rankings, all-time:
    • Site-wide: 10,913 out of 89,267
    • In genomics: 1,552 out of 5,695
  • Year to date:
    • Site-wide: 26,622 out of 89,267
  • Since beginning of last month:
    • Site-wide: 40,765 out of 89,267

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

genetics more details view paper
  • Downloaded 999 times
  • Download rankings, all-time:
    • Site-wide: 11,501 out of 89,267
    • In genetics: 774 out of 4,618
  • Year to date:
    • Site-wide: 76,479 out of 89,267
  • Since beginning of last month:
    • Site-wide: 83,370 out of 89,267

Identifying long indels in exome sequencing data of patients with intellectual disability

genomics more details view paper
  • Downloaded 923 times
  • Download rankings, all-time:
    • Site-wide: 12,995 out of 89,267
    • In genomics: 1,764 out of 5,695
  • Year to date:
    • Site-wide: 26,163 out of 89,267
  • Since beginning of last month:
    • Site-wide: 33,082 out of 89,267

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

genetics more details view paper
  • Downloaded 329 times
  • Download rankings, all-time:
    • Site-wide: 49,088 out of 89,267
    • In genetics: 2,793 out of 4,618
  • Year to date:
    • Site-wide: 15,936 out of 89,267
  • Since beginning of last month:
    • Site-wide: 32,049 out of 89,267

Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

genetics more details view paper
  • Downloaded 286 times
  • Download rankings, all-time:
    • Site-wide: 55,112 out of 89,267
    • In genetics: 3,110 out of 4,618
  • Year to date:
    • Site-wide: 66,872 out of 89,267
  • Since beginning of last month:
    • Site-wide: 83,069 out of 89,267

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