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

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

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

Author(s) -

Johanna C. Herkert,

Kristin M. Abbott,

Erwin Birnie,

Martine T. Meems-Veldhuis,

Ludolf G. Boven,

Marloes Benjamins,

Gideon J. du Marchie Sarvaas,

Daniela Q.C.M. BargeSchaapveld,

J. Peter van Tintelen,

Paul A. van der Zwaag,

Yvonne J. Vos,

Richard J. Sinke,

Maarten P. van den Berg,

Irene M. van Langen,

Jan D.H. Jongbloed

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.9

Subject(s) - dilated cardiomyopathy , medicine , genetic testing , exome , exome sequencing , cardiomyopathy , genetics , mutation , heart failure , gene , biology

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.

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