title: Hyperphenylalaninemia and the genomic revolution.
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Farrah
authors.initials: F
authors.lastname: Rajabi
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
authors.forename: Harvey L
authors.initials: HL
authors.lastname: Levy
mesh_terms: D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: Cofactor deficiency; Genomic revolution; Hyperphenylalaninemia; Newborn screening; Next-generation sequencing; Phenylketonuria