Published in Am J Hum Genet on February 14, 2008
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The role of epigenetic variation in the pathogenesis of systemic lupus erythematosus. Arthritis Res Ther (2011) 0.97
Characterization of large structural genetic mosaicism in human autosomes. Am J Hum Genet (2015) 0.96
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Mol Cytogenet (2012) 0.96
Genome-wide analysis of copy number variation in type 1 diabetes. PLoS One (2010) 0.96
A twin study of heritable and shared environmental contributions to autism. J Autism Dev Disord (2014) 0.95
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood. Hum Genet (2009) 0.95
Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease. Clin Exp Immunol (2010) 0.95
Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer. Epigenetics (2012) 0.95
Next-generation sequencing. Breast Cancer Res (2009) 0.94
Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data. Mov Disord (2013) 0.94
The impact of environmental experiences on symptoms of anxiety and depression across the life span. Psychol Sci (2011) 0.94
De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems. Eur J Hum Genet (2012) 0.94
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Mol Cytogenet (2012) 0.93
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Mol Brain (2011) 0.93
Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med (2011) 0.92
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One (2009) 0.92
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet (2010) 0.92
Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate. Twin Res Hum Genet (2009) 0.91
Epigenetic signature of birth weight discordance in adult twins. BMC Genomics (2014) 0.91
Genetic risk factors for disordered eating in adolescent males and females. J Abnorm Psychol (2009) 0.91
New cytogenetically visible copy number variant in region 8q21.2. Mol Cytogenet (2011) 0.90
Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease. Prog Retin Eye Res (2015) 0.90
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome. PLoS One (2013) 0.89
How meaningful are heritability estimates of liability? Hum Genet (2013) 0.89
The Nuremberg Code subverts human health and safety by requiring animal modeling. BMC Med Ethics (2012) 0.89
Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins. Transl Psychiatry (2011) 0.89
Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects. Mol Syndromol (2012) 0.88
The human genome puzzle - the role of copy number variation in somatic mosaicism. Curr Genomics (2010) 0.87
mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities. BMC Genomics (2014) 0.86
Genome-wide DNA methylation and gene expression analyses of monozygotic twins discordant for intelligence levels. PLoS One (2012) 0.86
Epigenetics of discordant monozygotic twins: implications for disease. Genome Med (2014) 0.86
Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis. Front Immunol (2014) 0.84
ATF3 plays a key role in Kdo2-lipid A-induced TLR4-dependent gene expression via NF-κB activation. PLoS One (2010) 0.84
Discordance of prenatal and neonatal brain development in twins. Early Hum Dev (2008) 0.83
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient. PLoS One (2010) 0.83
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet (2011) 0.83
Somatic mosaicism: on the road to cancer. Nat Rev Cancer (2015) 0.83
Chromosomal Rearrangements in Cancer: Detection and potential causal mechanisms. Mol Cell Oncol (2014) 0.83
Dissecting complex phenotypes using the genomics of twins. Funct Integr Genomics (2010) 0.82
Copy number variation of the SELENBP1 gene in schizophrenia. Behav Brain Funct (2010) 0.82
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. BMC Genomics (2015) 0.82
Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease. BMC Genomics (2014) 0.82
Unrevealed mosaicism in the next-generation sequencing era. Mol Genet Genomics (2015) 0.81
DNA methylation differences in monozygotic twin pairs discordant for schizophrenia identifies psychosis related genes and networks. BMC Med Genomics (2015) 0.81
Glutathione S-transferase copy number variation alters lung gene expression. Eur Respir J (2011) 0.81
Association between reduced copy-number at T-cell receptor gamma (TCRgamma) and childhood allergic asthma: A possible role for somatic mosaicism. Mutat Res (2010) 0.81
A mechanism of gene amplification driven by small DNA fragments. PLoS Genet (2012) 0.81
Etiologies and molecular mechanisms of communication disorders. J Dev Behav Pediatr (2010) 0.81
Developmental biology: Two by two. Nature (2009) 0.80
Mosaicism in health and disease - clones picking up speed. Nat Rev Genet (2016) 0.79
Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Mol Cytogenet (2016) 0.79
Cheek swabs, SNP chips, and CNVs: assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping microarray. BMC Med Genet (2012) 0.79
Comprehensive analysis of copy number variation in monozygotic twins discordant for bipolar disorder or schizophrenia. Schizophr Res (2013) 0.79
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
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A (2005) 15.46
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet (2004) 7.68
The Swedish Twin Registry: a unique resource for clinical, epidemiological and genetic studies. J Intern Med (2002) 5.37
Netherlands Twin Register: from twins to twin families. Twin Res Hum Genet (2006) 3.71
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med (2006) 3.59
Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet (1996) 3.12
Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet (2002) 2.85
Recurrent DNA inversion rearrangements in the human genome. Proc Natl Acad Sci U S A (2007) 2.29
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol (2006) 1.92
Major changes in our DNA lead to major changes in our thinking. Nat Genet (2007) 1.83
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell (2001) 1.75
Frequency of new copy number variation in humans. Nat Genet (2005) 1.71
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet (2002) 1.69
Epigenetics and twins: three variations on the theme. Trends Genet (2006) 1.51
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
Somatic gene mutation and human disease other than cancer. Mutat Res (2003) 1.29
Mechanisms for differences in monozygous twins. Early Hum Dev (2001) 1.19
Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. Cancer Genet Cytogenet (2006) 1.09
The LCB Data Warehouse. Bioinformatics (2006) 1.07
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH. J Med Genet (2005) 1.06
Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med (Berl) (2003) 1.05
Complete ascertainment of Parkinson disease in the Swedish Twin Registry. Neurobiol Aging (2007) 1.02
Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis. Leukemia (2002) 1.02
Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics (2006) 0.98
Twin registries: an ongoing success story. Twin Res Hum Genet (2006) 0.92
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. Neuromuscul Disord (2003) 0.90
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
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
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
A potential decline in life expectancy in the United States in the 21st century. N Engl J Med (2005) 19.63
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Years of life lost due to obesity. JAMA (2003) 12.18
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms. Nucleic Acids Res (2008) 10.10
Caloric restriction delays disease onset and mortality in rhesus monkeys. Science (2009) 9.84
Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation. Mol Cell (2008) 9.76
Repeatability of published microarray gene expression analyses. Nat Genet (2008) 8.24
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
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med (2007) 7.29
Waist circumference percentiles in nationally representative samples of African-American, European-American, and Mexican-American children and adolescents. J Pediatr (2004) 7.08
Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry (2006) 6.68
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res (2003) 6.43
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
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Air pollution and lung cancer incidence in 17 European cohorts: prospective analyses from the European Study of Cohorts for Air Pollution Effects (ESCAPE). Lancet Oncol (2013) 6.12
Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med (2011) 5.91
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Vaccine-induced cellular immune responses reduce plasma viral concentrations after repeated low-dose challenge with pathogenic simian immunodeficiency virus SIVmac239. J Virol (2006) 4.68
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Nucleosomes are well positioned in exons and carry characteristic histone modifications. Genome Res (2009) 3.95
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Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation (2011) 3.68
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Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet (2003) 3.60
Gag-specific CD8+ T lymphocytes recognize infected cells before AIDS-virus integration and viral protein expression. J Immunol (2007) 3.59
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The Swedish Twin Registry in the third millennium: an update. Twin Res Hum Genet (2006) 3.58
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Evaluation of a portable device to measure daily energy expenditure in free-living adults. Am J Clin Nutr (2007) 3.18
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New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Bayesian model selection for genome-wide epistatic quantitative trait loci analysis. Genetics (2005) 3.10
A Swedish national twin study of lifetime major depression. Am J Psychiatry (2006) 3.06
Heritable rather than age-related environmental and stochastic factors dominate variation in DNA methylation of the human IGF2/H19 locus. Hum Mol Genet (2007) 3.06
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet (2011) 3.03
Geographical structure and differential natural selection among North European populations. Genome Res (2009) 3.03
Prevalence, heritability, and prospective risk factors for anorexia nervosa. Arch Gen Psychiatry (2006) 3.02
Cancer as a risk factor for long-term cognitive deficits and dementia. J Natl Cancer Inst (2005) 3.02
Telomere length predicts survival independent of genetic influences. Aging Cell (2007) 3.01
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med (2004) 3.00
Detection of gene x gene interactions in genome-wide association studies of human population data. Hum Hered (2007) 2.97
Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans. Proc Natl Acad Sci U S A (2008) 2.97
Sex differences in heritability of BMI: a comparative study of results from twin studies in eight countries. Twin Res (2003) 2.96
Collective and individual functions of leptin receptor modulated neurons controlling metabolism and ingestion. Endocrinology (2007) 2.95
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Anesthesia and cognitive performance in children: no evidence for a causal relationship. Twin Res Hum Genet (2009) 2.90