Characteristics of rare and private deletions identified in phenotypically normal individuals
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201737.pdf
Reference94 articles.
1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749–764.
2. Buysse K, Delle Chiaie B, Van Coster R, Loeys B, De Paepe A, Mortier G et al. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet 2009; 52: 398–403.
3. ACOG. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013; 122: 1374–1377.
4. Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K et al. Clinical impacts of genomic copy number gains at Xq28. Hum Genome Var 2014; 1: 14001.
5. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 2008; 10: 267–277.
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