Published in Am J Hum Genet on January 22, 2009
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
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
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet (2012) 5.99
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet (2010) 5.78
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med (2011) 3.51
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proc Natl Acad Sci U S A (2011) 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
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Genomic variation in natural populations of Drosophila melanogaster. Genetics (2012) 2.33
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet (2014) 2.18
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet (2012) 2.08
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet (2010) 1.97
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry (2010) 1.95
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry (2011) 1.94
Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol (2011) 1.88
Gene copy-number alterations: a cost-benefit analysis. Cell (2013) 1.79
Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays. Nucleic Acids Res (2010) 1.77
Copy number variation plays an important role in clinical epilepsy. Ann Neurol (2014) 1.73
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology (2013) 1.72
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
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
Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest (2015) 1.56
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord (2010) 1.51
Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet (2011) 1.50
Comparing spatial maps of human population-genetic variation using Procrustes analysis. Stat Appl Genet Mol Biol (2010) 1.48
Global diversity, population stratification, and selection of human copy-number variation. Science (2015) 1.48
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol (2012) 1.46
Identification of copy number variations and common deletion polymorphisms in cattle. BMC Genomics (2010) 1.46
Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet (2009) 1.44
The Molecular Karyotype of 25 Clinical-Grade Human Embryonic Stem Cell Lines. Sci Rep (2015) 1.40
Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology. Gigascience (2014) 1.36
CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. BMC Bioinformatics (2010) 1.36
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet (2011) 1.35
Gene copy-number polymorphism in nature. Proc Biol Sci (2010) 1.35
Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Res (2011) 1.33
Long-read, whole-genome shotgun sequence data for five model organisms. Sci Data (2014) 1.30
Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics (2012) 1.30
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics (2015) 1.26
Ethical challenges in genotype-driven research recruitment. Genome Res (2010) 1.26
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. Hum Mutat (2011) 1.25
Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. Biol Psychiatry (2011) 1.25
Global increases in both common and rare copy number load associated with autism. Hum Mol Genet (2013) 1.24
Child development and molecular genetics: 14 years later. Child Dev (2012) 1.23
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One (2013) 1.23
The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet (2012) 1.23
The effect of algorithms on copy number variant detection. PLoS One (2010) 1.23
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data. BMC Bioinformatics (2011) 1.22
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. Cell Death Differ (2011) 1.21
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics (2011) 1.21
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet (2015) 1.20
DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet (2011) 1.20
Epilepsy and the new cytogenetics. Epilepsia (2011) 1.19
Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet A (2010) 1.19
An initial comparative map of copy number variations in the goat (Capra hircus) genome. BMC Genomics (2010) 1.18
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. Am J Hum Genet (2015) 1.17
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. Nat Genet (2016) 1.10
Identification of copy number variation hotspots in human populations. Am J Hum Genet (2010) 1.08
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet (2013) 1.08
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet (2010) 1.06
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet (2013) 1.06
A map of copy number variations in Chinese populations. PLoS One (2011) 1.05
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Mol Psychiatry (2010) 1.05
Rare copy number deletions predict individual variation in intelligence. PLoS One (2011) 1.04
Nature's genetic gradients and the clinical phenotype. Circ Cardiovasc Genet (2009) 1.04
Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet (2012) 1.02
The evolution of human segmental duplications and the core duplicon hypothesis. Cold Spring Harb Symp Quant Biol (2009) 1.01
Identification of genome-wide copy number variations among diverse pig breeds by array CGH. BMC Genomics (2012) 1.01
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda) (2012) 1.00
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. Eur J Hum Genet (2011) 1.00
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet (2014) 0.99
Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2011) 0.99
Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us? Eur J Hum Genet (2011) 0.99
DiNAMIC: a method to identify recurrent DNA copy number aberrations in tumors. Bioinformatics (2010) 0.99
The genomics of schizophrenia: update and implications. J Clin Invest (2013) 0.98
Genetically complex epilepsies, copy number variants and syndrome constellations. Genome Med (2010) 0.98
Optimizing copy number variation analysis using genome-wide short sequence oligonucleotide arrays. Nucleic Acids Res (2010) 0.98
Copy number variation of microRNA genes in the human genome. BMC Genomics (2011) 0.97
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
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
Structural variation in the human genome. Nat Rev Genet (2006) 21.40
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
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
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
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
A human genome diversity cell line panel. Science (2002) 14.11
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Effect of statin therapy on C-reactive protein levels: the pravastatin inflammation/CRP evaluation (PRINCE): a randomized trial and cohort study. JAMA (2001) 5.54
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet (2006) 5.42
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet (2006) 5.10
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Bias of selection on human copy-number variants. PLoS Genet (2006) 4.44
Mutational and selective effects on copy-number variants in the human genome. Nat Genet (2007) 3.82
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
Unsupervised segmentation of continuous genomic data. Bioinformatics (2007) 3.35
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol (2006) 2.94
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Genomic disorders on 22q11. Am J Hum Genet (2002) 2.63
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet (1999) 2.62
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. Hum Mol Genet (1998) 2.25
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet (2007) 2.00
Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord (2006) 1.65
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genome-wide mapping of in vivo protein-DNA interactions. Science (2007) 64.92
Model-based analysis of ChIP-Seq (MACS). Genome Biol (2008) 51.63
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
Diagnosis and management of the metabolic syndrome: an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation (2005) 43.74
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Recent segmental duplications in the human genome. Science (2002) 21.30
Inflammation and atherosclerosis. Circulation (2002) 20.77
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Evolving gene/transcript definitions significantly alter the interpretation of GeneChip data. Nucleic Acids Res (2005) 17.58
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
An integrated software system for analyzing ChIP-chip and ChIP-seq data. Nat Biotechnol (2008) 13.96
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
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Vitamin E in the primary prevention of cardiovascular disease and cancer: the Women's Health Study: a randomized controlled trial. JAMA (2005) 12.09
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature (2010) 12.07
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Genome-wide analysis of transcription factor binding sites based on ChIP-Seq data. Nat Methods (2008) 11.61
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Widespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles. Science (2005) 10.46
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Fasting compared with nonfasting triglycerides and risk of cardiovascular events in women. JAMA (2007) 9.68
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis. Nat Med (2013) 9.44
Progress and challenges in translating the biology of atherosclerosis. Nature (2011) 9.41
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. Genome Res (2012) 9.13
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04
Limitations of next-generation genome sequence assembly. Nat Methods (2010) 9.04
Low-dose aspirin in the primary prevention of cancer: the Women's Health Study: a randomized controlled trial. JAMA (2005) 9.03
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77
Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol (2010) 8.69
From vulnerable plaque to vulnerable patient: a call for new definitions and risk assessment strategies: Part I. Circulation (2003) 8.61
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
Signals of recent positive selection in a worldwide sample of human populations. Genome Res (2009) 8.38
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
The genome of the cucumber, Cucumis sativus L. Nat Genet (2009) 8.19
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
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