Published in Genome Res on October 05, 2007
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet (2010) 5.78
Differential sensitivity of melanoma cell lines with BRAFV600E mutation to the specific Raf inhibitor PLX4032. J Transl Med (2010) 5.57
The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet (2008) 5.08
A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
Whole population, genome-wide mapping of hidden relatedness. Genome Res (2008) 4.72
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data. Biostatistics (2009) 4.31
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res (2008) 4.22
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. Nat Biotechnol (2011) 3.97
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. Mol Psychiatry (2008) 3.85
The characterization of twenty sequenced human genomes. PLoS Genet (2010) 3.72
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14
Integrated study of copy number states and genotype calls using high-density SNP arrays. Nucleic Acids Res (2009) 3.09
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat Genet (2011) 3.02
Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry (2013) 3.01
CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature (2013) 2.96
Host determinants of HIV-1 control in African Americans. J Infect Dis (2010) 2.90
Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays. Genome Biol (2009) 2.88
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 2.75
A statistical approach for detecting genomic aberrations in heterogeneous tumor samples from single nucleotide polymorphism genotyping data. Genome Biol (2010) 2.72
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet (2010) 2.70
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays. Genome Biol (2008) 2.67
Reference-guided assembly of four diverse Arabidopsis thaliana genomes. Proc Natl Acad Sci U S A (2011) 2.67
Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios. BMC Bioinformatics (2008) 2.66
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee. PLoS Genet (2011) 2.28
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry (2011) 2.28
Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD. Am J Psychiatry (2012) 2.20
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet (2012) 2.07
Analysis of copy number variations among diverse cattle breeds. Genome Res (2010) 2.02
Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res (2009) 2.02
Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. Nucleic Acids Res (2009) 1.98
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet (2010) 1.97
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry (2011) 1.94
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet (2012) 1.94
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet (2012) 1.92
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91
Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A (2010) 1.85
Genomic landscape of carcinogen-induced and genetically induced mouse skin squamous cell carcinoma. Nat Med (2015) 1.80
Large multiallelic copy number variations in humans. Nat Genet (2015) 1.79
Cloning and variation of ground state intestinal stem cells. Nature (2015) 1.78
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res (2010) 1.77
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood (2012) 1.76
GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays. Nucleic Acids Res (2011) 1.75
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet (2011) 1.74
RAD21 mutations cause a human cohesinopathy. Am J Hum Genet (2012) 1.72
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
Major copy proportion analysis of tumor samples using SNP arrays. BMC Bioinformatics (2008) 1.62
Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol Psychiatry (2013) 1.60
Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol (2011) 1.60
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet (2013) 1.59
Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood (2011) 1.57
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. Nat Neurosci (2013) 1.56
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications. Discov Med (2011) 1.52
Genomewide pharmacogenetics of bisphosphonate-induced osteonecrosis of the jaw: the role of RBMS3. Oncologist (2012) 1.50
Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence. Alcohol Clin Exp Res (2012) 1.50
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. Nature (2017) 1.50
High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians. Genome Biol (2009) 1.49
Genomic characteristics of cattle copy number variations. BMC Genomics (2011) 1.48
Duplication of 7q34 is specific to juvenile pilocytic astrocytomas and a hallmark of cerebellar and optic pathway tumours. Br J Cancer (2009) 1.48
Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol (2010) 1.48
Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics (2010) 1.47
Copy number variation of the APC gene is associated with regulation of bone mineral density. Bone (2012) 1.46
The genetics of Tourette syndrome: a review. J Psychosom Res (2009) 1.46
Identification of copy number variations and common deletion polymorphisms in cattle. BMC Genomics (2010) 1.46
Parent-specific copy number in paired tumor-normal studies using circular binary segmentation. Bioinformatics (2011) 1.45
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry (2012) 1.45
Copy number variation of KIR genes influences HIV-1 control. PLoS Biol (2011) 1.44
Accuracy of CNV Detection from GWAS Data. PLoS One (2011) 1.44
Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip. BMC Genomics (2010) 1.43
cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. Nat Methods (2010) 1.41
High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results. BMC Med Genet (2012) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. J Thorac Cardiovasc Surg (2015) 1.41
Using the R Package crlmm for Genotyping and Copy Number Estimation. J Stat Softw (2011) 1.41
Detection and validation of structural variations in bovine whole-genome sequence data. Genet Sel Evol (2017) 1.39
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39
Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias. BMC Genomics (2012) 1.39
BLAT--the BLAST-like alignment tool. Genome Res (2002) 126.78
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
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
The UCSC genome browser database: update 2007. Nucleic Acids Res (2006) 13.04
Segmental duplications: organization and impact within the current human genome project assembly. Genome Res (2001) 11.77
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet (2005) 9.61
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Copy-number variation and association studies of human disease. Nat Genet (2007) 8.50
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet (2004) 7.68
A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet (2005) 7.64
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet (2007) 5.64
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet (2001) 5.23
Bias of selection on human copy-number variants. PLoS Genet (2006) 4.44
Completing the map of human genetic variation. Nature (2007) 4.38
Whole genome genotyping technologies on the BeadArray platform. Biotechnol J (2007) 3.61
BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data. Bioinformatics (2006) 3.41
The population genetics of structural variation. Nat Genet (2007) 3.07
Trisomy 12 in Epstein-Barr virus-transformed lymphoblastoid cell lines of normal individuals and patients with nonhematologic malignancies. Cancer Genet Cytogenet (1992) 1.28
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Aneuploidy and consistent structural chromosome changes associated with transformation of Syrian hamster embryo cells. Cancer Genet Cytogenet (1997) 1.18
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Rare variants create synthetic genome-wide associations. PLoS Biol (2010) 14.43
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Phenotypic characterization of human colorectal cancer stem cells. Proc Natl Acad Sci U S A (2007) 13.58
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet (2007) 12.27
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
The knockout mouse project. Nat Genet (2004) 7.80
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nat Genet (2007) 5.88
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet (2004) 5.31
Promoter features related to tissue specificity as measured by Shannon entropy. Genome Biol (2005) 5.19
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth. Neuroimage (2012) 4.84
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet (2005) 4.45
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data. Neuroimage (2012) 4.30
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
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Variants of DENND1B associated with asthma in children. N Engl J Med (2009) 4.18
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet (2008) 3.36
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet (2009) 3.19
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Circ Cardiovasc Genet (2010) 3.15
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 3.13
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
The landscape of recombination in African Americans. Nature (2011) 3.06
Sex differences in the structural connectome of the human brain. Proc Natl Acad Sci U S A (2013) 3.06
Systematic review and meta-analysis of the association between {beta}2-adrenoceptor polymorphisms and asthma: a HuGE review. Am J Epidemiol (2005) 3.00
From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS Genet (2009) 2.99
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitis. Nat Med (2013) 2.94
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 2.90
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nat Genet (2009) 2.85