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Author: Jennefer N. Kohler

Rankings

  • All-time downloads: 2,911 (rank: 28,385 (tie) out of 336,734)
  • Categories:
    • genetics: 343 (rank: 22,853 (tie) out of 32,490)
    • genomics: 2,568 (rank: 6,444 (tie) out of 36,992)

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Preprints

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

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    • In genomics: 591 out of 5,088
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    • Site-wide: 14,171 out of 77,679
  • Since beginning of last month:
    • Site-wide: 10,576 out of 77,679

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

genomics more details view paper
  • Downloaded 606 times
  • Download rankings, all-time:
    • Site-wide: 20,150 out of 77,679
    • In genomics: 2,347 out of 5,088
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    • Site-wide: 11,175 out of 77,679
  • Since beginning of last month:
    • Site-wide: 7,609 out of 77,679

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

genetics more details view paper
  • Downloaded 343 times
  • Download rankings, all-time:
    • Site-wide: 39,319 out of 77,679
    • In genetics: 2,361 out of 4,189
  • Year to date:
    • Site-wide: 33,710 out of 77,679
  • Since beginning of last month:
    • Site-wide: 74,654 out of 77,679

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