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

Genomics in newborn screening.

Author information

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.

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

PMID:
23992678
DOI:
10.1016/j.jpeds.2013.07.028
[Indexed for MEDLINE]

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