Detection of Constitutional Structural Variants by Optical Genome Mapping
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Publisher
Elsevier BV
Reference65 articles.
1. Major birth defects data from population-based birth defects surveillance programs in the United States, 2006-2010;Birth Defects Res A Clin Mol Teratol,2013
2. Clinical approach to human structural defects;Graham;Semin Perinatol,1991
3. Prevalence and trends of developmental disabilities among children in the United States: 2009-2017;Zablotsky;Pediatrics,2019
4. An integrated map of structural variation in 2,504 human genomes;Sudmant;Nature,2015
5. 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
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