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Author: Eric V Minikel

Rankings

  • All-time downloads: 53,303 (rank: 651 out of 364,450)
  • Categories:
    • biochemistry: 224 (rank: 12,076 (tie) out of 16,168)
    • genetics: 1,954 (rank: 7,417 (tie) out of 34,141)
    • genomics: 49,299 (rank: 123 out of 39,303)
    • molecular biology: 477 (rank: 7,666 (tie) out of 18,643)
    • neuroscience: 1,349 (rank: 11,229 (tie) out of 61,201)

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
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    • Site-wide: 7,767 out of 84,712

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
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    • In genomics: 9 out of 5,464
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Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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

genomics more details view paper
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    • Site-wide: 7,171 out of 84,712

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

neuroscience more details view paper
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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
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Prion protein quantification in cerebrospinal fluid as a tool for prion disease drug development

molecular biology more details view paper
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Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry

neuroscience more details view paper
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Characterization of the prion protein binding properties of antisense oligonucleotides

biochemistry more details view paper
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    • In biochemistry: 1,885 out of 2,750
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    • Site-wide: 79,447 out of 84,712

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

neuroscience more details view paper
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