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Author: Jonathan A. Bernstein

  • Most recently observed institution: Stanford University

Rankings

  • All-time downloads: 8,595 (rank: 7,257 (tie) out of 336,742)
  • Categories:
    • genetics: 3,360 (rank: 4,025 (tie) out of 32,491)
    • genomics: 5,235 (rank: 2,867 out of 36,991)

Downloads per author, site-wide

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: 592 out of 5,088
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    • Site-wide: 14,270 out of 77,679
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    • Site-wide: 10,800 out of 77,679

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

genetics more details view paper
  • Downloaded 1,875 times
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    • In genetics: 269 out of 4,189
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    • Site-wide: 17,253 out of 77,679
  • Since beginning of last month:
    • Site-wide: 21,131 out of 77,679

High Frequency Actionable Pathogenic Exome Mutations in an Average-Risk Cohort

genomics more details view paper
  • Downloaded 1,590 times
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    • Site-wide: 4,366 out of 77,679
    • In genomics: 769 out of 5,088
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    • Site-wide: 17,605 out of 77,679
  • Since beginning of last month:
    • Site-wide: 10,772 out of 77,679

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis

genomics more details view paper
  • Downloaded 614 times
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    • In genomics: 2,314 out of 5,088
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  • Since beginning of last month:
    • Site-wide: 43,875 out of 77,679

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

genomics more details view paper
  • Downloaded 582 times
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    • In genomics: 2,425 out of 5,088
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    • Site-wide: 16,100 out of 77,679
  • Since beginning of last month:
    • Site-wide: 6,296 out of 77,679

AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

genetics more details view paper
  • Downloaded 540 times
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    • In genetics: 1,522 out of 4,189
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    • Site-wide: 24,866 out of 77,679

S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

genomics more details view paper
  • Downloaded 487 times
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    • In genomics: 2,804 out of 5,088
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  • Since beginning of last month:
    • Site-wide: 40,961 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
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    • In genetics: 2,361 out of 4,189
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  • Since beginning of last month:
    • Site-wide: 74,501 out of 77,679

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

genetics more details view paper
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    • Site-wide: 39,440 out of 77,679
    • In genetics: 2,367 out of 4,189
  • Year to date:
    • Site-wide: 9,360 out of 77,679
  • Since beginning of last month:
    • Site-wide: 13,495 out of 77,679

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

genetics more details view paper
  • Downloaded 260 times
  • Download rankings, all-time:
    • Site-wide: 49,833 out of 77,679
    • In genetics: 2,913 out of 4,189
  • Year to date:
    • Site-wide: 13,477 out of 77,679
  • Since beginning of last month:
    • Site-wide: 11,501 out of 77,679

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