Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely offered chromosomal microarray (CMA) testing, but the diagnostic yield of CMA on C...

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Detalles Bibliográficos
Publicado en:BMC Genomics
Main Authors: Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4378009/
https://ncbi.nlm.nih.gov/pubmed/25516202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-1127
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