Genomics in newborn screening

Yuval E Landau; Uta Lichter-Konecki; Harvey L Levy

doi:10.1016/j.jpeds.2013.07.028

Genomics in newborn screening

J Pediatr. 2014 Jan;164(1):14-9. doi: 10.1016/j.jpeds.2013.07.028. Epub 2013 Aug 27.

Authors

Yuval E Landau¹, Uta Lichter-Konecki², Harvey L Levy³

Affiliations

¹ 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.
² Division of Genetics and Metabolism, Children's National Medical Center and the Department of Pediatrics, The George Washington University School of Medicine, Washington, DC.
³ Division of Genetics, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address: harvey.levy@childrens.harvard.edu.

PMID: 23992678
DOI: 10.1016/j.jpeds.2013.07.028

No abstract available

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.

Publication types

Research Support, N.I.H., Extramural
Review

MeSH terms

Brain Diseases, Metabolic, Inborn* / diagnosis
Brain Diseases, Metabolic, Inborn* / epidemiology
Brain Diseases, Metabolic, Inborn* / genetics
Genetic Techniques*
Genomics / methods*
Global Health
Humans
Incidence
Infant, Newborn
Neonatal Screening / methods*

Grants and funding

9U54HD061221/HD/NICHD NIH HHS/United States