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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Publicat a:BMC Genomics
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research Article
Accés en línia: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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