Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the difficulty of accurately phenotyping newborns cont...

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Detalles Bibliográficos
Autores principales: Gordon, David M., Cunningham, David, Zender, Gloria, Lawrence, Patrick J., Penaloza, Jacqueline S., Lin, Hui, Fitzgerald-Butt, Sara M., Myers, Katherine, Duong, Tiffany, Corsmeier, Donald J., Gaither, Jeffrey B., Kuck, Harkness C., Wijeratne, Saranga, Moreland, Blythe, Kelly, Benjamin J., Garg, Vidu, White, Peter, McBride, Kim L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9258875/
https://www.ncbi.nlm.nih.gov/pubmed/35737725
http://dx.doi.org/10.1371/journal.pgen.1010236

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