Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

doi:10.1016/j.jtcvs.2015.09.136

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Article

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

The Journal of thoracic and cardiovascular surgery - 1 Apr 2016

Kim Daniel Seung, Kim Jerry H, Burt Amber A, Crosslin David R, Burnham Nancy, Kim Cecilia E, McDonald-McGinn Donna M, Zackai Elaine H, Nicolson Susan C, Spray Thomas L, Stanaway Ian B, Nickerson Deborah A, Heagerty Patrick J, Hakonarson Hakon, Gaynor J William, Jarvik Gail P

Abstract excerpt

OBJECTIVES: Copy number variants (CNVs) are duplications or deletions of genomic regions. Large CNVs are potentially pathogenic and are overrepresented in children with congenital heart disease (CHD). We sought to determine the frequency of large CNVs in children with isolated CHD, and to evaluate the relationship of these potentially pathogenic CNVs with transplant-free survival. METHODS: These cases are derived...

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PMID: 26704054
DOI: 10.1016/j.jtcvs.2015.09.136
PMCID: PMC4801686

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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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