De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

Congenital heart disease (CHD) has a complex genetic etiology, and recent studies suggest that high penetrance de novo mutations may account for only a small fraction of disease. In a multi-institutional cohort surveyed by exome sequencing, combining analysis of 987 individuals (discovery cohort of...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Priest, James R., Osoegawa, Kazutoyo, Mohammed, Nebil, Nanda, Vivek, Kundu, Ramendra, Schultz, Kathleen, Lammer, Edward J., Girirajan, Santhosh, Scheetz, Todd, Waggott, Daryl, Haddad, Francois, Reddy, Sushma, Bernstein, Daniel, Burns, Trudy, Steimle, Jeffrey D., Yang, Xinan H., Moskowitz, Ivan P., Hurles, Matthew, Lifton, Richard P., Nickerson, Debbie, Bamshad, Michael, Eichler, Evan E., Mital, Seema, Sheffield, Val, Quertermous, Thomas, Gelb, Bruce D., Portman, Michael, Ashley, Euan A.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4825975/
https://ncbi.nlm.nih.gov/pubmed/27058611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005963
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