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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439931/
https://www.ncbi.nlm.nih.gov/pubmed/32812804
http://dx.doi.org/10.1161/CIRCGEN.119.002836

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