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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Publicat a:PLoS Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2016
Matèries:
Research Article
Accés en línia: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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