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

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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Bibliographic Details
Main Authors: David M Gordon, David Cunningham, Gloria Zender, Patrick J Lawrence, Jacqueline S Penaloza, Hui Lin, Sara M Fitzgerald-Butt, Katherine Myers, Tiffany Duong, Donald J Corsmeier, Jeffrey B Gaither, Harkness C Kuck, Saranga Wijeratne, Blythe Moreland, Benjamin J Kelly, Baylor-Johns Hopkins Center for Mendelian Genomics, Vidu Garg, Peter White, Kim L McBride
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-06-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1010236

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https://doi.org/10.1371/journal.pgen.1010236

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