Copy Number Variants in Human Health and Disease - September 24, 2015

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Copy Number Variants

Copy Number Variants in Human Health and Disease - September 24, 2015

Special report: chromosomal microarray for the genetic evaluation of patients with global developmental delay, intellectual disability, and autism spectrum disorder 
Blue Cross Blue Shield Association, August 2015

The science, applications, and ethical concerns surrounding low copy number DNA analysis.
Schulz R et al. Genet Test Mol Biomarkers 2015 Jun 19(6) 281-2

Copy number variations and cognitive phenotypes in unselected populations 
Mannik K et al, JAMA May 26, 2015

Cognitive phenotypes and genomic copy number variations
Lupski JR , JAMA May 26, 2015

Clinical implications of copy number variations in autoimmune disorders.
Yim Seon-Hee et al. Korean J. Intern. Med. 2015 May (3) 294-304

The variation game: Cracking complex genetic disorders with NGS and omics data.
Cui H et al. Methods 2015 Jun 1. 18-31

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair N et al. Mol Cytogenet 2015 26

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype - a systematic review and meta-analysis.
Grande M et al. Ultrasound Obstet Gynecol 2015 Apr 20.

Cerebral palsy - causes, pathways, and the role of genetic variants.
MacLennan AH et al. Am. J. Obstet. Gynecol. 2015 May 20.

The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos.
Fan J et al. Reprod. Biomed. Online 2015 Apr 9.

Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
Naseer MI et al. BMC Genomics 2015 S10

Structural variation mutagenesis of the human genome: Impact on disease and evolution.
Lupski JR et al. Environ. Mol. Mutagen. 2015 Apr 17.

Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder MW et al. N. Engl. J. Med. 2015 Apr 23. (17) 1639-45

Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.
Vishweswaraiah S et al. Allergy Asthma Immunol Res 2015 May (3) 265-75

Copy number variations' effect on drug response still overlooked.
Willyard C et al. Nat. Med. 2015 Mar (3) 206

Rare structural genetic variation in human prion diseases.
Lukic A et al. Neurobiol. Aging 2015 May (5) 2004.e1-8

Estimating copy numbers of alleles from population-scale high-throughput sequencing data.
Mimori T et al. BMC Bioinformatics 2015 S4

Copy number variations in children with brain malformations and refractory epilepsy.
Wincent J et al. Am. J. Med. Genet. A 2015 Mar (3) 512-23

A copy number variation map of the human genome.
Zarrei M et al. Nat. Rev. Genet. 2015 Mar (3) 172-83