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Addressing Benefits, Risks and Consent in Next Generation Sequencing StudiesParents are interested in newborn genomic testing during the early postpartum periodDefining "mutation" and "polymorphism" in the era of personal genomics.Genomic newborn screening: public health policy considerations and recommendations.Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing.Newborn screening: the genomic challenge.Molecular genetics and diagnosis of phenylketonuria: state of the art.Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.Genetics professionals' opinions of whole-genome sequencing in the newborn period.Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Future of whole genome sequencing.Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.Can we afford to sequence every newborn baby's genome?FROM EXPANDED NEONATAL SCREENING TO THE POST-GENOMIC ERA.Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.Newborn Screening in the Era of Precision Medicine.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Genomics in newborn screening.
@en
type
label
Genomics in newborn screening.
@en
prefLabel
Genomics in newborn screening.
@en
P2093
P1476
Genomics in newborn screening.
@en
P2093
Harvey L Levy
Uta Lichter-Konecki
Yuval E Landau
P356
10.1016/J.JPEDS.2013.07.028
P407
P577
2013-08-27T00:00:00Z