Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

PURPOSE: The genetic etiology of atrioventricular septal defect (AVSD) is unknown in 40% cases. Conventional sequencing and arrays have identified the etiology in only a minority of non-syndromic individuals with AVSD. METHODS: Whole exome sequencing was performed in 81 unrelated probands with AVSD...

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Veröffentlicht in:Genet Med
Hauptverfasser: D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5988035/
https://ncbi.nlm.nih.gov/pubmed/25996639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.60
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