Challenges in clinical interpretation of microduplications detected by array CGH analysis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference67 articles.
1. Mapping autism risk loci using genetic linkage and chromosomal rearrangements;Autism Genome Project Consortium;Nat Genet,2007
2. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication;Ballif;Mol Cytogenet,2008
3. 8p23.1 duplication syndrome: A novel genomic condition with unexpected complexity revealed by array CGH;Barber;Eur J Hum Genet,2008
4. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair;Bauters;Genome Res,2008
5. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region;Berg;Genet Med,2007
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