De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

doi:10.1161/CIRCGEN.119.002836

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Article

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Circulation. Genomic and precision medicine - 1 Aug 2020

Boskovski Marko T, Homsy Jason, Nathan Meena, Sleeper Lynn A, Morton Sarah, Manheimer Kathryn B, Tai Angela, Gorham Joshua, Lewis Matthew, Swartz Michael, Alfieris George M, Bacha Emile A, Karimi Mohsen, Meyer David, Nguyen Khanh, Bernstein Daniel, Romano-Adesman Angela, Porter George A, Goldmuntz Elizabeth, Chung Wendy K, Srivastava Deepak, Kaltman Jonathan R, Tristani-Firouzi Martin, Lifton Richard, Roberts Amy E, Gaynor J William, Gelb Bruce D, Kim Richard, Seidman Jonathan G, Brueckner Martina, Mayer John E, Newburger Jane W, Seidman Christine E

Abstract excerpt

BACKGROUND: De novo genic and copy number variants are enriched in patients with congenital heart disease, particularly those with extra-cardiac anomalies. The impact of de novo damaging variants on outcomes following cardiac repair is unknown. METHODS: We studied 2517 patients with congenital heart disease who had undergone whole-exome sequencing as part of the CHD GENES study (Congenital Heart Disease Genetic...

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PMID: 32812804
DOI: 10.1161/CIRCGEN.119.002836
PMCID: PMC7439931

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