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Article

Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.

HGG advances - 18 Jul 2024

Slavotinek Anne M, Thompson Michelle L, Martin Lisa J, Gelb Bruce D

Abstract excerpt

Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardiac disease and phenotypic subtypes of congenital heart disease (CHD) have been little studied. We report the diagnostic yield after next-generation sequencing in 500 patients...

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Share to Cardiovascular Diseases
Share to Child, Preschool
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Heart Defects, Congenital

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Source

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Identifiers

PMID: 38521975
DOI: 10.1016/j.xhgg.2024.100286
PMCID: PMC11024993

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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