Author: Eric Vallabh Minikel

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Preprints

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

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  • Site-wide: 260
  • In genomics: 10
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  • Site-wide: 2,317
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Analysis of protein-coding genetic variation in 60,706 humans

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  • Site-wide: 289
  • In genomics: 11
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  • Site-wide: 41,708
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Autoantibodies against the prion protein in individuals with PRNP mutations

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  • Site-wide: 1,563
  • In neurology: 4
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  • Site-wide: 524
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Evaluating potential drug targets through human loss-of-function genetic variation

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  • Site-wide: 1,978
  • In genomics: 211
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  • Site-wide: 6,141
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

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  • In genetics: 331
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  • Site-wide: 53,385
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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

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  • Site-wide: 7,180
  • In genomics: 808
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Age of onset in genetic prion disease and the design of preventive clinical trials

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  • Site-wide: 24,662
  • In neuroscience: 3,284
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  • Site-wide: 43,909
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Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

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  • Site-wide: 32,731
  • In genomics: 2,910
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Multimodal small-molecule screening for human prion protein binders

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  • Site-wide: 38,951
  • In biochemistry: 961
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Prion protein lowering is a disease-modifying therapy across prion strains, disease stages, and endpoints

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  • Site-wide: 40,125
  • In neuroscience: 5,770
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  • Site-wide: 29,147
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Domain-specific quantification of prion protein in cerebrospinal fluid by targeted mass spectrometry

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  • In neuroscience: 6,494
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  • Site-wide: 46,516
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Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

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  • Site-wide: 61,928
  • In neurology: 122
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Characterization of the prion protein binding properties of antisense oligonucleotides

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  • Site-wide: 82,924
  • In biochemistry: 2,395
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Novel quaternary structures of the human prion protein globular domain

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  • Site-wide: 108,811
  • In biochemistry: 3,224
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