title: Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.
abstract: Recent work has used a family-based approach and whole-exome sequencing to identify de novo mutations in sporadic cases of mental retardation.
authors.affiliation: Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. peter.robinson@charite.de
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D030541:Databases, Genetic; D005091:Exons; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation