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Author: Eric V Minikel

Rankings

  • All-time downloads: 27,942 (rank: 1,132 out of 337,659)
  • Categories:
    • biochemistry: 204 (rank: 10,951 (tie) out of 14,323)
    • genetics: 1,929 (rank: 7,132 (tie) out of 32,540)
    • genomics: 24,248 (rank: 279 out of 37,074)
    • molecular biology: 456 (rank: 6,704 (tie) out of 16,806)
    • neuroscience: 1,105 (rank: 12,282 (tie) out of 56,830)

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Preprints

Prion protein lowering is a disease-modifying therapy across prion strains, disease stages, and endpoints

neuroscience more details view paper

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Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

genomics more details view paper
  • Downloaded 18,106 times
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    • Site-wide: 56 out of 77,926
    • In genomics: 10 out of 5,102
  • Year to date:
    • Site-wide: 107 out of 77,926
  • Since beginning of last month:
    • Site-wide: 191 out of 77,926

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 3,894 times
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    • Site-wide: 912 out of 77,926
    • In genomics: 214 out of 5,102
  • Year to date:
    • Site-wide: 2,820 out of 77,926
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    • Site-wide: 4,680 out of 77,926

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
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    • Site-wide: 3,150 out of 77,926
    • In genetics: 258 out of 4,199
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    • Site-wide: 36,029 out of 77,926
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    • Site-wide: 27,581 out of 77,926

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 1,626 times
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    • In genomics: 739 out of 5,102
  • Year to date:
    • Site-wide: 6,570 out of 77,926
  • Since beginning of last month:
    • Site-wide: 6,116 out of 77,926

Age of onset in genetic prion disease and the design of preventive clinical trials

neuroscience more details view paper
  • Downloaded 677 times
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    • Site-wide: 17,190 out of 77,926
    • In neuroscience: 2,896 out of 13,956
  • Year to date:
    • Site-wide: 20,704 out of 77,926
  • Since beginning of last month:
    • Site-wide: 16,794 out of 77,926

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 622 times
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    • Site-wide: 19,481 out of 77,926
    • In genomics: 2,294 out of 5,102
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    • Site-wide: 61,451 out of 77,926
  • Since beginning of last month:
    • Site-wide: 65,397 out of 77,926

Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

molecular biology more details view paper
  • Downloaded 456 times
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    • Site-wide: 29,098 out of 77,926
    • In molecular biology: 868 out of 2,563
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    • Site-wide: 58,727 out of 77,926
  • Since beginning of last month:
    • Site-wide: 63,206 out of 77,926

Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry

neuroscience more details view paper
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    • Site-wide: 31,307 out of 77,926
    • In neuroscience: 5,404 out of 13,956
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    • Site-wide: 32,130 out of 77,926
  • Since beginning of last month:
    • Site-wide: 30,937 out of 77,926

Characterization of the prion protein binding properties of antisense oligonucleotides

biochemistry more details view paper
  • Downloaded 204 times
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    • Site-wide: 58,332 out of 77,926
    • In biochemistry: 1,735 out of 2,448
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    • Site-wide: 44,868 out of 77,926
  • Since beginning of last month:
    • Site-wide: 69,437 out of 77,926

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