Published in N Engl J Med on September 10, 2008
Finding the missing heritability of complex diseases. Nature (2009) 67.95
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
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
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
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
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Modernizing reference genome assemblies. PLoS Biol (2011) 5.23
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain (2009) 3.96
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
Genomics, intellectual disability, and autism. N Engl J Med (2012) 3.74
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 analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25
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Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev (2009) 2.96
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med (2012) 2.86
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron (2012) 2.84
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
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The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci (2011) 2.61
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
How best to use CGH arrays in the clinical setting. Genet Med (2009) 2.14
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci (2010) 2.13
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet (2009) 2.13
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Hum Genet (2012) 2.08
Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. Proc Natl Acad Sci U S A (2009) 1.95
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
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron (2015) 1.91
Genomic disorders ten years on. Genome Med (2009) 1.81
Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol (2010) 1.76
Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75
A genotype-first approach to defining the subtypes of a complex disease. Cell (2014) 1.72
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A (2011) 1.71
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Hum Mol Genet (2009) 1.71
Genetics of psychosis; insights from views across the genome. Hum Genet (2009) 1.68
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet (2011) 1.65
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol (2013) 1.48
Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2010) 1.47
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
Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet (2009) 1.44
Genetic studies in intellectual disability and related disorders. Nat Rev Genet (2015) 1.40
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. Eur J Hum Genet (2009) 1.39
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med (2009) 1.37
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet (2011) 1.35
Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet (2012) 1.35
Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis (2010) 1.35
Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35
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
The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent. Curr Psychiatry Rep (2009) 1.33
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res (2014) 1.32
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A (2010) 1.31
"What does it mean?": uncertainties in understanding results of chromosomal microarray testing. Genet Med (2012) 1.31
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum Mol Genet (2012) 1.29
DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet (2012) 1.28
Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophr Res (2011) 1.28
Ethical challenges in genotype-driven research recruitment. Genome Res (2010) 1.26
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex. Eur J Hum Genet (2010) 1.26
1q21.1 Microduplication expression in adults. Genet Med (2012) 1.25
The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet C Semin Med Genet (2012) 1.23
The role of genetics in the etiology of schizophrenia. Psychiatr Clin North Am (2010) 1.22
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet (2009) 1.20
Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry (2009) 1.19
Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry (2011) 1.18
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet (2015) 1.17
The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet (2014) 1.16
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet (2010) 1.16
Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry (2013) 1.16
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Mol Psychiatry (2013) 1.15
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet (2013) 1.15
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. Mol Syndromol (2015) 1.13
Recent advances in Tourette syndrome. Curr Opin Neurol (2011) 1.13
DUF1220 domains, cognitive disease, and human brain evolution. Cold Spring Harb Symp Quant Biol (2009) 1.13
The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry (2014) 1.11
Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis (2011) 1.11
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
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
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
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
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
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
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet (2006) 5.50
Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet (2007) 4.59
Copy-number variation in control population cohorts. Hum Mol Genet (2007) 3.88
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet (2006) 3.70
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res (2004) 3.67
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet (1998) 3.64
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat (2007) 3.52
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
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
Defining the clinical spectrum of deletion 22q11.2. J Pediatr (2005) 2.66
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet (2005) 2.60
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet (2007) 2.54
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci (2005) 2.21
A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics (2006) 1.91
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet (2007) 1.77
Genomic imbalances associated with mullerian aplasia. J Med Genet (2007) 1.61
Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. Circ Res (2004) 1.59
High incidence of cardiac malformations in connexin40-deficient mice. Circ Res (2003) 1.54
Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat (2008) 1.45
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry (2004) 1.43
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet (2007) 1.36
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis (2008) 1.34
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet (2008) 1.28
The association of human connexin 40 genetic polymorphisms with atrial fibrillation. Int J Cardiol (2006) 1.28
Cx40 polymorphism in human atrial fibrillation. Adv Cardiol (2006) 0.99
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol (2002) 82.19
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
Global variation in copy number in the human genome. Nature (2006) 57.50
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
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
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
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
Signatures of mutational processes in human cancer. Nature (2013) 21.63
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
International network of cancer genome projects. Nature (2010) 20.35
Landscape of transcription in human cells. Nature (2012) 20.18
A microRNA component of the p53 tumour suppressor network. Nature (2007) 19.25
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell (2011) 16.72
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol (2007) 16.15
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
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
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
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
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
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
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
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
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
The landscape of cancer genes and mutational processes in breast cancer. Nature (2012) 11.24
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Genetic heterogeneity in human disease. Cell (2010) 10.67
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
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
The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature (2010) 10.04
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
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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
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44