Published in Nat Methods on May 30, 2010
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat Neurosci (2014) 2.23
A map of copy number variations in Chinese populations. PLoS One (2011) 1.05
Genetics of immunological and inflammatory components in age-related macular degeneration. Ocul Immunol Inflamm (2012) 1.04
cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data. Genome Biol (2012) 0.98
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96
An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis. Bioinformatics (2012) 0.94
Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. PLoS One (2013) 0.88
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. Hum Mol Genet (2013) 0.87
Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort. BMC Genomics (2012) 0.86
Structural architecture of SNP effects on complex traits. Am J Hum Genet (2014) 0.85
A latent variable partial least squares path modeling approach to regional association and polygenic effect with applications to a human obesity study. PLoS One (2012) 0.85
famCNV: copy number variant association for quantitative traits in families. Bioinformatics (2011) 0.85
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity. Hum Mol Genet (2012) 0.83
The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays (Basel) (2015) 0.82
Inferring haplotypes of copy number variations from high-throughput data with uncertainty. G3 (Bethesda) (2011) 0.81
A method for calling copy number polymorphism using haplotypes. Front Genet (2013) 0.80
Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data. BMC Genomics (2012) 0.80
VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions. Front Genet (2014) 0.79
HaplotypeCN: copy number haplotype inference with Hidden Markov Model and localized haplotype clustering. PLoS One (2014) 0.77
Estimating copy numbers of alleles from population-scale high-throughput sequencing data. BMC Bioinformatics (2015) 0.75
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. PLoS One (2016) 0.75
sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors. Nucleic Acids Res (2016) 0.75
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature (2007) 35.08
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet (2006) 28.32
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
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
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
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet (2004) 8.85
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet (2009) 6.39
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
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet (2007) 4.07
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54
Efficient calculation of interval scores for DNA copy number data analysis. J Comput Biol (2006) 2.73
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
Small deletion variants have stable breakpoints commonly associated with alu elements. PLoS One (2008) 1.30
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays. Am J Hum Genet (2008) 1.27
Disease association tests by inferring ancestral haplotypes using a hidden markov model. Bioinformatics (2008) 1.09
Improved techniques for the identification of pseudogenes. Bioinformatics (2004) 1.04
Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions. BMC Bioinformatics (2008) 1.01
A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature (2007) 35.08
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet (2007) 13.62
Approximate Bayesian computation in population genetics. Genetics (2002) 13.06
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Cloning of adiponectin receptors that mediate antidiabetic metabolic effects. Nature (2003) 9.79
Epigenome-wide association studies for common human diseases. Nat Rev Genet (2011) 7.96
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies. PLoS Genet (2008) 6.66
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet (2009) 6.39
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet (2007) 5.93
Targeted disruption of AdipoR1 and AdipoR2 causes abrogation of adiponectin binding and metabolic actions. Nat Med (2007) 5.89
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. Nat Genet (2008) 5.55
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet (2008) 5.49
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet (2009) 5.43
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. JAMA (2009) 5.32
Identifying adaptive genetic divergence among populations from genome scans. Mol Ecol (2004) 5.31
Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol (2007) 4.96
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med (2006) 4.88
Disruption of adiponectin causes insulin resistance and neointimal formation. J Biol Chem (2002) 4.79
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet (2005) 4.44
A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels. Science (2008) 4.38
Bayesian statistical methods for genetic association studies. Nat Rev Genet (2009) 4.37
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Globular adiponectin protected ob/ob mice from diabetes and ApoE-deficient mice from atherosclerosis. J Biol Chem (2002) 4.16
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Genome-wide association study identifies five loci associated with lung function. Nat Genet (2009) 4.10
Impaired multimerization of human adiponectin mutants associated with diabetes. Molecular structure and multimer formation of adiponectin. J Biol Chem (2003) 4.08
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet (2007) 4.07
Sequence-level population simulations over large genomic regions. Genetics (2007) 4.04
Inferring population history with DIY ABC: a user-friendly approach to approximate Bayesian computation. Bioinformatics (2008) 4.02
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med (2011) 3.94
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Improved heritability estimation from genome-wide SNPs. Am J Hum Genet (2012) 3.48
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet (2011) 3.46
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human. Nature (2012) 3.41
Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. Am J Hum Genet (2007) 3.31
Genome-wide significance for dense SNP and resequencing data. Genet Epidemiol (2008) 3.26
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Hum Mol Genet (2008) 3.24
Common nonsynonymous variants in PCSK1 confer risk of obesity. Nat Genet (2008) 3.24
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
Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet (2010) 3.21
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis. J Mol Med (Berl) (2007) 3.17
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med (2011) 3.14
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Genetic variation in the gene encoding adiponectin is associated with an increased risk of type 2 diabetes in the Japanese population. Diabetes (2002) 3.04
Logistic regression protects against population structure in genetic association studies. Genome Res (2005) 2.94
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. Diabetes (2009) 2.92
Transcription factor TCF7L2 genetic study in the French population: expression in human beta-cells and adipose tissue and strong association with type 2 diabetes. Diabetes (2006) 2.85
The genetics of human obesity. Nat Rev Genet (2005) 2.83
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. Nat Genet (2010) 2.81
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. Hum Mol Genet (2002) 2.72
The genetic contribution to non-syndromic human obesity. Nat Rev Genet (2009) 2.70
Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study. Diabetes (2007) 2.69
The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. Diabetes (2008) 2.65
A genome-wide association meta-analysis identifies new childhood obesity loci. Nat Genet (2012) 2.60
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis (2009) 2.53
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet (2007) 2.50
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly. Nat Biotechnol (2011) 2.45
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
A survey of genes differentially expressed in subcutaneous and visceral adipose tissue in men. Obes Res (2004) 2.33
Predicting diabetes: clinical, biological, and genetic approaches: data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR). Diabetes Care (2008) 2.32
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet (2010) 2.30
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. J Allergy Clin Immunol (2011) 2.24
Fregene: simulation of realistic sequence-level data in populations and ascertained samples. BMC Bioinformatics (2008) 2.23
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat Genet (2012) 2.15
Insulin/Foxo1 pathway regulates expression levels of adiponectin receptors and adiponectin sensitivity. J Biol Chem (2004) 2.15