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Health and population effects of rare gene knockouts in adult humans with related parents
Analysis of protein-coding genetic variation in 60,706 humans
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations
Annotation of functional variation in personal genomes using RegulomeDB
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes