Published in Nat Biotechnol on May 08, 2011
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet (2012) 3.69
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet (2014) 2.84
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47
Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res (2012) 1.62
SHANK1 Deletions in Males with Autism Spectrum Disorder. Am J Hum Genet (2012) 1.59
Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet (2011) 1.56
Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol Psychiatry (2014) 1.46
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet (2012) 1.44
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum Mol Genet (2013) 1.44
Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics (2012) 1.30
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) (2012) 1.30
Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res (2012) 1.24
Using ERDS to infer copy-number variants in high-coverage genomes. Am J Hum Genet (2012) 1.22
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet (2013) 1.22
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet (2015) 1.20
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms. PLoS One (2011) 1.18
Computational methods for detecting copy number variations in cancer genome using next generation sequencing: principles and challenges. Oncotarget (2013) 1.15
Copy number variation analysis of matched ovarian primary tumors and peritoneal metastasis. PLoS One (2011) 1.08
Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array. BMC Genomics (2012) 1.04
DNA fragmentation simulation method (FSM) and fragment size matching improve aCGH performance of FFPE tissues. PLoS One (2012) 1.02
Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity (Edinb) (2011) 1.02
Non-random DNA fragmentation in next-generation sequencing. Sci Rep (2014) 1.01
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda) (2012) 1.00
Zebrafish sex: a complicated affair. Brief Funct Genomics (2013) 1.00
Human gene copy number variation and infectious disease. Hum Genet (2014) 0.97
A preliminary study of copy number variation in Tibetans. PLoS One (2012) 0.96
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry (2014) 0.96
A high-resolution copy-number variation resource for clinical and population genetics. Genet Med (2014) 0.95
ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res (2013) 0.94
Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music. PLoS One (2013) 0.94
Genetic association studies of copy-number variation: should assignment of copy number states precede testing? PLoS One (2012) 0.93
Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Mol Psychiatry (2013) 0.93
Copy number variation in the cattle genome. Funct Integr Genomics (2012) 0.92
Measurement of absolute copy number variation reveals association with essential hypertension. BMC Med Genomics (2014) 0.90
Analysis of copy number variants by three detection algorithms and their association with body size in horses. BMC Genomics (2013) 0.89
Guidelines for the design, analysis and interpretation of 'omics' data: focus on human endometrium. Hum Reprod Update (2013) 0.89
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data. Genomics Inform (2012) 0.87
Twins, tissue, and time: an assessment of SNPs and CNVs. Twin Res Hum Genet (2012) 0.87
Structural genomic variation as risk factor for idiopathic recurrent miscarriage. Hum Mutat (2014) 0.87
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics (2014) 0.87
High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry (2016) 0.87
CNVs leading to fusion transcripts in individuals with autism spectrum disorder. Eur J Hum Genet (2012) 0.86
Clinically relevant copy number variations detected in cerebral palsy. Nat Commun (2015) 0.86
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort. BMC Genomics (2012) 0.86
SG-ADVISER CNV: copy-number variant annotation and interpretation. Genet Med (2014) 0.86
Chromosomal variation in lymphoblastoid cell lines. Hum Mutat (2012) 0.86
Escaping the cut by restriction enzymes through single-strand self-annealing of host-edited 12-bp and longer synthetic palindromes. DNA Cell Biol (2011) 0.85
Identification of germline genomic copy number variation in familial pancreatic cancer. Hum Genet (2012) 0.85
Identification of candidate intergenic risk loci in autism spectrum disorder. BMC Genomics (2013) 0.85
Germline copy number variations associated with breast cancer susceptibility in a Japanese population. Tumour Biol (2012) 0.85
Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing. BMC Genomics (2014) 0.85
Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. Genes Immun (2015) 0.84
Genome-wide copy number variant discovery in dogs using the CanineHD genotyping array. BMC Genomics (2014) 0.84
Reconstructing DNA copy number by joint segmentation of multiple sequences. BMC Bioinformatics (2012) 0.84
Transcriptome sequencing of tumor subpopulations reveals a spectrum of therapeutic options for squamous cell lung cancer. PLoS One (2013) 0.83
Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle. Mamm Genome (2013) 0.83
Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies. Genet Epidemiol (2012) 0.83
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. Eur J Hum Genet (2013) 0.83
Copy number variation in Han Chinese individuals with autism spectrum disorder. J Neurodev Disord (2014) 0.82
Genome-wide CNV analysis in mouse induced pluripotent stem cells reveals dosage effect of pluripotent factors on genome integrity. BMC Genomics (2014) 0.82
Ohnologs are overrepresented in pathogenic copy number mutations. Proc Natl Acad Sci U S A (2013) 0.82
The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays (Basel) (2015) 0.82
Expanding probe repertoire and improving reproducibility in human genomic hybridization. Nucleic Acids Res (2013) 0.81
Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. BMC Bioinformatics (2014) 0.80
Enhancing systems medicine beyond genotype data by dynamic patient signatures: having information and using it too. Front Genet (2013) 0.80
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet (2014) 0.80
Detection of genome-wide copy number variations in two chicken lines divergently selected for abdominal fat content. BMC Genomics (2014) 0.80
Inheritance model introduces differential bias in CNV calls between parents and offspring. Genet Epidemiol (2012) 0.80
Copy number variation genotyping using family information. BMC Bioinformatics (2013) 0.80
Copy number variations among silkworms. BMC Genomics (2014) 0.80
Rare de novo copy number variants in patients with congenital pulmonary atresia. PLoS One (2014) 0.80
Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. PLoS One (2016) 0.79
Ultradense array CGH and discovery of micro-copy number alterations and gene fusions in the cancer genome. Methods Mol Biol (2013) 0.79
Number of rare germline CNVs and TP53 mutation types. Orphanet J Rare Dis (2012) 0.79
Leukocyte-specific protein 1 regulates T-cell migration in rheumatoid arthritis. Proc Natl Acad Sci U S A (2015) 0.79
Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data. Microarrays (Basel) (2013) 0.79
Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. Biol Psychiatry (2015) 0.79
Loss of heterozygosity at the CYP2D6 locus in breast cancer: implications for germline pharmacogenetic studies. J Natl Cancer Inst (2014) 0.78
Deleted copy number variation of Hanwoo and Holstein using next generation sequencing at the population level. BMC Genomics (2014) 0.78
Genome Fusion Detection: a novel method to detect fusion genes from SNP-array data. Bioinformatics (2013) 0.78
Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. Genomics (2013) 0.78
Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation. Bioinformatics (2013) 0.78
Family-Based Benchmarking of Copy Number Variation Detection Software. PLoS One (2015) 0.78
Extensive load of somatic CNVs in the human placenta. Sci Rep (2015) 0.78
Identification of rare germline copy number variations over-represented in five human cancer types. Mol Cancer (2015) 0.78
Copy number variations and stroke. Neurol Sci (2016) 0.78
Concordance of copy number alterations using a common analytic pipeline for genome-wide analysis of Illumina and Affymetrix genotyping data: a report from the Children's Oncology Group. Cancer Genet (2015) 0.77
Population-genetic properties of differentiated copy number variations in cattle. Sci Rep (2016) 0.77
Hidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping Microarrays. Cancer Inform (2015) 0.77
Improved Detection and Characterization of Copy Number Variations Among Diverse Pig Breeds by Array CGH. G3 (Bethesda) (2015) 0.77
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD). J Neuroinflammation (2016) 0.77
Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. PLoS One (2014) 0.77
Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes. Eur J Hum Genet (2015) 0.77
Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants. PLoS One (2013) 0.77
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach. Genet Med (2016) 0.77
Evaluation of calling algorithms for array-CGH. Front Genet (2013) 0.77
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The International HapMap Project. Nature (2003) 73.65
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet (1998) 21.52
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet (2010) 11.82
Multiple-laboratory comparison of microarray platforms. Nat Methods (2005) 11.74
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Evaluation of gene expression measurements from commercial microarray platforms. Nucleic Acids Res (2003) 8.08
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics (2005) 6.44
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics (2004) 5.65
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet (2007) 4.10
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Copy-number variation in control population cohorts. Hum Mol Genet (2007) 3.88
Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res (2006) 3.68
Resolving the resolution of array CGH. Genomics (2007) 3.66
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Microarray results: how accurate are they? BMC Bioinformatics (2002) 3.23
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
A comparison of DNA copy number profiling platforms. Cancer Res (2007) 2.63
Comparing CNV detection methods for SNP arrays. Brief Funct Genomic Proteomic (2009) 2.58
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A (2008) 2.22
Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors. BMC Genomics (2008) 2.11
Widening the spectrum of human genetic variation. Nat Genet (2006) 1.97
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res (2010) 1.77
The pitfalls of platform comparison: DNA copy number array technologies assessed. BMC Genomics (2009) 1.55
Array-based DNA diagnostics: let the revolution begin. Annu Rev Med (2008) 1.54
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. Genome Biol (2009) 1.49
Strategies for the detection of copy number and other structural variants in the human genome. Hum Genomics (2006) 1.32
A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH. BMC Genomics (2007) 1.17
Array-based comparative genomic hybridization and copy number variation in cancer research. Cytogenet Genome Res (2006) 1.03
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. Eur J Hum Genet (2008) 1.00
Comparison of comparative genomic hybridization technologies across microarray platforms. J Biomol Tech (2009) 0.94
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science (2005) 39.06
MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science (2007) 32.68
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature (2005) 15.28
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
A DNA damage checkpoint response in telomere-initiated senescence. Nature (2003) 12.55
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Prepublication data sharing. Nature (2009) 12.24
The National Microbial Pathogen Database Resource (NMPDR): a genomics platform based on subsystem annotation. Nucleic Acids Res (2006) 11.15
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
EMBL Nucleotide Sequence Database in 2006. Nucleic Acids Res (2006) 9.72
EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer. Clin Cancer Res (2008) 9.29
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Diet and the evolution of human amylase gene copy number variation. Nat Genet (2007) 8.64
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Preexistence and clonal selection of MET amplification in EGFR mutant NSCLC. Cancer Cell (2010) 7.78
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet (2009) 7.61
TMPRSS2:ERG fusion-associated deletions provide insight into the heterogeneity of prostate cancer. Cancer Res (2006) 7.61
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
A highly annotated whole-genome sequence of a Korean individual. Nature (2009) 6.91
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97