Pathogenic or not? Assessing the clinical relevance of copy number variants
Author:
Affiliation:
1. Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences; Radboud University Medical Centre; Nijmegen The Netherlands
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference71 articles.
1. Detection and characterization of copy number variation in autism spectrum disorder;Marshall;Methods Mol Biol,2012
2. Duplication hotspots, rare genomic disorders, and common disease;Mefford;Curr Opin Genet Dev,2009
3. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010
4. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis;Vissers;J Med Genet,2010
5. Origins and functional impact of copy number variation in the human genome;Conrad;Nature,2010
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