Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.

doi:10.1038/gim.2018.9

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Article

Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2018

Herkert Johanna C, Abbott Kristin M, Birnie Erwin, Meems-Veldhuis Martine T, Boven Ludolf G, Benjamins Marloes, du Marchie Sarvaas Gideon J, Barge-Schaapveld Daniela Q C M, van Tintelen J Peter, van der Zwaag Paul A, Vos Yvonne J, Sinke Richard J, van den Berg Maarten P, van Langen Irene M, Jongbloed Jan D H

Abstract excerpt

PURPOSE: We evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number variation (CNV) analysis. Based on our findings, we retrospectively designed an effective approach for genetic testing in pediatric DCM. METHODS: We identified 95 patients (in 85 families) with pediatric onset of DCM. We initially excluded 13...

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PMID: 29517769
DOI: 10.1038/gim.2018.9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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