Author: Eric V Minikel

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Preprints

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

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

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

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

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

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

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

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Characterization of the prion protein binding properties of antisense oligonucleotides

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

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