Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases-Reference-Cited by-同舟云学术

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

Published:2014-01-08 Issue:8 Volume:22 Page:969-978
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pham Justin,Shaw Chad,Pursley Amber,Hixson Patricia,Sampath Srirangan,Roney Erin,Gambin Tomasz,Kang Sung-Hae L,Bi Weimin,Lalani Seema,Bacino Carlos,Lupski James R,Stankiewicz Pawel,Patel Ankita,Cheung Sau-Wai

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013285.pdf

Reference37 articles.

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2. Ballif BC, Rorem EA, Sundin K et al: Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006; 140: 2757–2767.

3. Conlin LK, Thiel BD, Bonnemann CG et al: Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010; 19: 1263–1275.

4. Bruno DL, White SM, Ganesamoorthy D et al: Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet 2011; 48: 831–839.

5. Bi W, Borgan C, Pursley AN et al: Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med 2012; 15 (6): 450–457.

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