title: Whole-exome sequencing effective at diagnosing elusive genetic disorders: tests diagnose about 25% of patients, find a variety of mutation types.
authors.forename: Deborah
authors.initials: D
authors.lastname: Levenson
mesh_terms: D059472:Exome; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009154:Mutation