Published in Hum Genet on January 13, 2013
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. Mol Syndromol (2015) 1.13
Association of NCAM1 polymorphisms with autism and parental age at conception in a Chinese Han population. Genet Test Mol Biomarkers (2014) 0.75
When Recessive Genes Mutate to Dominant Gene Action. Mol Syndromol (2016) 0.75
Examining genotypic variation in autism spectrum disorder and its relationship to parental age and phenotype. Appl Clin Genet (2016) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Rate of de novo mutations and the importance of father's age to disease risk. Nature (2012) 11.92
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
Variation in genome-wide mutation rates within and between human families. Nat Genet (2011) 8.84
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat Genet (2008) 6.69
Parental age and mutation. Lancet (1955) 4.58
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Can neuroscience be integrated into the DSM-V? Nat Rev Neurosci (2007) 3.98
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54
The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol (2009) 3.44
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science (2003) 3.39
Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol (2008) 3.30
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet (2007) 2.63
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol (2008) 2.54
Spontaneous mutation and parental age in humans. Am J Hum Genet (1987) 2.37
Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry (2010) 1.95
Effects of age on DNA double-strand breaks and apoptosis in human sperm. Fertil Steril (2003) 1.86
Epigenetics and the origins of paternal effects. Horm Behav (2010) 1.78
De novo copy number variants associated with intellectual disability have a paternal origin and age bias. J Med Genet (2011) 1.69
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat (2007) 1.66
Seeds of concern. Nature (2004) 1.57
Paternal age and intelligence: implications for age-related genomic changes in male germ cells. Psychiatr Genet (2005) 1.42
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proc Natl Acad Sci U S A (2002) 1.39
Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11. Eur J Hum Genet (2006) 1.26
Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry (2011) 1.18
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A (2010) 1.11
Development. There's something curious about paternal-age effects. Science (2003) 1.02
De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age. J Med Genet (2009) 1.01
Paternal age and psychiatric disorders: findings from a Dutch population registry. Schizophr Res (2011) 1.01
Differences in maternal and paternal age between schizophrenia and other psychiatric disorders. Schizophr Res (2009) 1.01
A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet (2010) 0.92
Contrasting effects of maternal and paternal age on offspring intelligence: the clock ticks for men too. PLoS Med (2009) 0.88
De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance. Eur J Hum Genet (2011) 0.87
Human genetics: mystery of the mutagenic male. Nature (2002) 0.83
Paternal age and congenital malformations in offspring in California, 1989-2002. Matern Child Health J (2012) 0.82
Re: "Advanced parental age and the risk of autism spectrum disorder". Am J Epidemiol (2009) 0.81
Delayed fathering and risk of mental disorders in adult offspring. Early Hum Dev (2011) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet (2007) 19.18
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Variance component model to account for sample structure in genome-wide association studies. Nat Genet (2010) 15.52
Many sequence variants affecting diversity of adult human height. Nat Genet (2008) 12.80
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet (2008) 12.43
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2007) 10.81
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet (2007) 8.79
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ Cardiovasc Genet (2009) 8.42
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
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
Host polymorphisms in interleukin 4, complement factor H, and C-reactive protein associated with nasal carriage of Staphylococcus aureus and occurrence of boils. J Infect Dis (2008) 7.45
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nat Genet (2009) 6.91
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. Nat Genet (2008) 6.10
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
The Rotterdam Study: objectives and design update. Eur J Epidemiol (2007) 5.78
Network component analysis: reconstruction of regulatory signals in biological systems. Proc Natl Acad Sci U S A (2003) 5.64
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet (2009) 5.32
Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet (2009) 5.20
Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility. Nat Genet (2009) 5.06
Correlation between genetic and geographic structure in Europe. Curr Biol (2008) 5.02
Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet (2009) 4.78
Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet (2008) 4.78
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet (2009) 4.56
The present and future burden of urinary bladder cancer in the world. World J Urol (2009) 4.56
Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet (2010) 4.51
Epidemiology and risk factors of urothelial bladder cancer. Eur Urol (2012) 4.45
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Efficiency of functional brain networks and intellectual performance. J Neurosci (2009) 4.25
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. PLoS Genet (2009) 4.24
Functionally linked resting-state networks reflect the underlying structural connectivity architecture of the human brain. Hum Brain Mapp (2009) 4.22
New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet (2011) 3.94
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
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. Nat Genet (2010) 3.93
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet (2008) 3.90
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat Genet (2010) 3.86
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry (2006) 3.86
The epidemiology of renal cell carcinoma. Eur Urol (2011) 3.85
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Aberrant frontal and temporal complex network structure in schizophrenia: a graph theoretical analysis. J Neurosci (2010) 3.80
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
DD3(PCA3), a very sensitive and specific marker to detect prostate tumors. Cancer Res (2002) 3.78
The human phenome project. Nat Genet (2003) 3.75
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. PLoS Genet (2011) 3.65
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes (2008) 3.54
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet (2006) 3.54
DD3(PCA3)-based molecular urine analysis for the diagnosis of prostate cancer. Eur Urol (2003) 3.52
Euthanasia and physician-assisted suicide among patients with amyotrophic lateral sclerosis in the Netherlands. N Engl J Med (2002) 3.51
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet (2012) 3.48
The Rotterdam Study: 2010 objectives and design update. Eur J Epidemiol (2009) 3.44
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Nat Genet (2013) 3.42
The relationship of DNA methylation with age, gender and genotype in twins and healthy controls. PLoS One (2009) 3.41