title: Genomics in newborn screening.
authors.affiliation: Division of Genetics, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA; Pediatric Neurology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Yuval E
authors.initials: YE
authors.lastname: Landau
authors.affiliation: Division of Genetics and Metabolism, Children's National Medical Center and the Department of Pediatrics, The George Washington University School of Medicine, Washington, DC.
authors.forename: Uta
authors.initials: U
authors.lastname: Lichter-Konecki
authors.affiliation: Division of Genetics, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: harvey.levy@childrens.harvard.edu.
authors.forename: Harvey L
authors.initials: HL
authors.lastname: Levy
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005821:Genetic Techniques; D023281:Genomics / Q000379:methods*; D014943:Global Health; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*
keywords: ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; PKU; Phenylketonuria; Polymerase chain reaction; VLCAD; VUS; Variants of unknown significance; Very long chain acyl-CoA dehydrogenase; WES; WGS; Whole exome sequencing; Whole genome sequencing