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Article

Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.

Pediatric cardiology - 1 Apr 2018

Pulignani Silvia, Vecoli Cecilia, Borghini Andrea, Foffa Ilenia, Ait-Alì Lamia, Andreassi Maria Grazia

Abstract excerpt

Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29332214
DOI: 10.1007/s00246-018-1806-y

Genes

GATA4
MYH6
NOTCH1
TBX1
ZFPM2

Variants

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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