Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays

(2010) Andrew E. Dellinger et al.   NUCLEIC ACIDS RESEARCH

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accounting for uncertainty when assessing association between copy number and disease: a latent class model

(2009) Juan R González et al.   BMC BIOINFORMATICS

The pitfalls of platform comparison: DNA copy number array technologies assessed

(2009) Christina Curtis et al.   BMC GENOMICS

Association of a Germ-Line Copy Number Variation at 2p24.3 and Risk for Aggressive Prostate Cancer

(2009) W. Liu et al.   CANCER RESEARCH

CNV discovery using SNP genotyping arrays

(2009) C. Yau et al.   CYTOGENETIC AND GENOME RESEARCH

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

(2009) Bao-Yong Sha et al.   JOURNAL OF HUMAN GENETICS

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

(2009) B Rodríguez-Santiago et al.   MOLECULAR PSYCHIATRY

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

(2009) Sekar Kathiresan et al.   NATURE GENETICS

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis

(2008) Tie-Lin Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays

(2008) Lude Franke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population

(2008) Joon Seol Bae et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Sparse representation and Bayesian detection of genome copy number alterations from microarray data

(2008) Roger Pique-Regi et al.   BIOINFORMATICS

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

(2008) Iuliana Ionita-Laza et al.   GENETIC EPIDEMIOLOGY

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations

(2008) S. Cronin et al.   HUMAN MOLECULAR GENETICS

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

(2008) Hylke M Blauw et al.   LANCET NEUROLOGY

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

A robust statistical method for case-control association testing with copy number variation

(2008) Chris Barnes et al.   NATURE GENETICS

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

(2008) Gregory M Cooper et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

Structural genomic variation in ischemic stroke

(2008) Mar Matarin et al.   NEUROGENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Genomewide SNP assay reveals mutations underlying Parkinson disease

(2007) Javier Simon-Sanchez et al.   HUMAN MUTATION