Published in Nucleic Acids Res on May 06, 2010
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet (2013) 2.14
Batch effect correction for genome-wide methylation data with Illumina Infinium platform. BMC Med Genomics (2011) 1.84
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med (2012) 1.01
Characterization of DNA methylation and its association with other biological systems in lymphoblastoid cell lines. Genomics (2012) 0.85
Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I. Chromosoma (2013) 0.82
Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes. Int J Mol Sci (2015) 0.82
Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene. J Neurodev Disord (2013) 0.81
High-throughput DNA methylation datasets for evaluating false discovery rate methodologies. Comput Stat Data Anal (2011) 0.79
Decreased cohesin in the brain leads to defective synapse development and anxiety-related behavior. J Exp Med (2017) 0.75
DNA methylation patterns and epigenetic memory. Genes Dev (2002) 33.83
Genome-scale DNA methylation maps of pluripotent and differentiated cells. Nature (2008) 30.29
Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet (2003) 25.57
DNA methylation profiling of human chromosomes 6, 20 and 22. Nat Genet (2006) 18.08
Stability and flexibility of epigenetic gene regulation in mammalian development. Nature (2007) 14.57
The Polycomb group protein EZH2 directly controls DNA methylation. Nature (2005) 13.67
Genomic DNA methylation: the mark and its mediators. Trends Biochem Sci (2006) 13.32
Comprehensive analysis of CpG islands in human chromosomes 21 and 22. Proc Natl Acad Sci U S A (2002) 12.33
X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature (2005) 12.06
Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature (2008) 12.01
DNA methylation and human disease. Nat Rev Genet (2005) 12.00
Methylation-induced repression--belts, braces, and chromatin. Cell (1999) 9.89
Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation. Nature (2007) 8.33
The evolution of gene regulation by transcription factors and microRNAs. Nat Rev Genet (2007) 7.92
Widespread monoallelic expression on human autosomes. Science (2007) 7.12
BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques (2002) 5.98
Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus. Nature (2009) 5.96
Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation. Nature (2007) 5.54
At the heart of the chromosome: SMC proteins in action. Nat Rev Mol Cell Biol (2006) 5.45
The structure and function of SMC and kleisin complexes. Annu Rev Biochem (2005) 5.38
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. PLoS Genet (2007) 5.16
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet (2004) 4.90
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet (2006) 3.89
Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes. Genetics (1999) 3.63
Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc Natl Acad Sci U S A (2008) 3.52
CpG island mapping by epigenome prediction. PLoS Comput Biol (2007) 3.02
The ABCs of SMC proteins: two-armed ATPases for chromosome condensation, cohesion, and repair. Genes Dev (2002) 2.97
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene. Mol Cell Biol (2004) 2.79
A structural-maintenance-of-chromosomes hinge domain-containing protein is required for RNA-directed DNA methylation. Nat Genet (2008) 2.74
Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome. Chromosoma (2007) 2.73
CpG island methylation in human lymphocytes is highly correlated with DNA sequence, repeats, and predicted DNA structure. PLoS Genet (2006) 2.66
A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q. Genome Res (2004) 2.56
Sp1 binding is inhibited by (m)Cp(m)CpG methylation. Gene (1997) 2.50
DNA methylation analysis of chromosome 21 gene promoters at single base pair and single allele resolution. PLoS Genet (2009) 2.37
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Nat Genet (2008) 2.19
The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem Biophys Res Commun (2005) 2.00
Cytosine methylation profiling of cancer cell lines. Proc Natl Acad Sci U S A (2008) 1.91
EpiGRAPH: user-friendly software for statistical analysis and prediction of (epi)genomic data. Genome Biol (2009) 1.83
Kappa chain monoallelic demethylation and the establishment of allelic exclusion. Genes Dev (1998) 1.81
Cohesin and human disease. Annu Rev Genomics Hum Genet (2008) 1.68
Chromatin remodeling, histone modifications, and DNA methylation-how does it all fit together? J Cell Biochem (2002) 1.67
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. Hum Mol Genet (2007) 1.56
Utility of lymphoblastoid cell lines. J Neurosci Res (2009) 1.51
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet (2008) 1.37
Toward a human epigenome. Nat Genet (2006) 1.28
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet (2002) 1.18
SMC1 involvement in fragile site expression. Hum Mol Genet (2005) 1.11
Active DNA demethylation and DNA repair. Differentiation (2008) 1.10
Evidence for epigenetic maintenance of Ly49a monoallelic gene expression. J Immunol (2006) 1.08
Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res (2006) 0.85
Gene clusters, molecular evolution and disease: a speculation. Curr Genomics (2009) 0.85
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
Comparative metagenomics revealed commonly enriched gene sets in human gut microbiomes. DNA Res (2007) 13.08
Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature (2008) 12.01
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
MetaGeneAnnotator: detecting species-specific patterns of ribosomal binding site for precise gene prediction in anonymous prokaryotic and phage genomes. DNA Res (2008) 6.82
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
S-phase checkpoint proteins Tof1 and Mrc1 form a stable replication-pausing complex. Nature (2003) 6.43
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nat Genet (2009) 6.02
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Cohesin relocation from sites of chromosomal loading to places of convergent transcription. Nature (2004) 5.00
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet (2007) 4.20
Postreplicative recruitment of cohesin to double-strand breaks is required for DNA repair. Mol Cell (2004) 3.83
Protein phosphatase 2A protects centromeric sister chromatid cohesion during meiosis I. Nature (2006) 3.81
Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway. Nat Genet (2006) 3.76
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet (2006) 3.55
Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. Nat Cell Biol (2012) 3.50
A GATA-1-regulated microRNA locus essential for erythropoiesis. Proc Natl Acad Sci U S A (2008) 3.10
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
Identification of cis-acting sites for condensin loading onto budding yeast chromosomes. Genes Dev (2008) 2.87
Construction and analysis of a human-chimpanzee comparative clone map. Science (2002) 2.83
Postreplicative formation of cohesion is required for repair and induced by a single DNA break. Science (2007) 2.82
Monopolar attachment of sister kinetochores at meiosis I requires casein kinase 1. Cell (2006) 2.70
Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology (2012) 2.69
A genomic view of mosaicism and human disease. Nat Rev Genet (2013) 2.67
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
The replication checkpoint protects fork stability by releasing transcribed genes from nuclear pores. Cell (2011) 2.65
Mrc1 and DNA polymerase epsilon function together in linking DNA replication and the S phase checkpoint. Mol Cell (2008) 2.63
Evidence that loading of cohesin onto chromosomes involves opening of its SMC hinge. Cell (2006) 2.58
Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation. Am J Obstet Gynecol (2002) 2.56
Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster. EMBO J (2009) 2.56
Origin association of Sld3, Sld7, and Cdc45 proteins is a key step for determination of origin-firing timing. Curr Biol (2011) 2.47
Establishment of sister chromatid cohesion at the S. cerevisiae replication fork. Mol Cell (2006) 2.39
Genome-wide localization of pre-RC sites and identification of replication origins in fission yeast. EMBO J (2007) 2.29
An Smc3 acetylation cycle is essential for establishment of sister chromatid cohesion. Mol Cell (2010) 2.23
The cyclic gene Hes1 contributes to diverse differentiation responses of embryonic stem cells. Genes Dev (2009) 2.19
A wave of nascent transcription on activated human genes. Proc Natl Acad Sci U S A (2009) 2.18
Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation (2004) 2.17
Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet (2013) 2.14
Chromosomal association of the Smc5/6 complex reveals that it functions in differently regulated pathways. Mol Cell (2006) 2.13
Genome-wide methylation analysis identifies genes specific to breast cancer hormone receptor status and risk of recurrence. Cancer Res (2011) 2.12
Sororin mediates sister chromatid cohesion by antagonizing Wapl. Cell (2010) 2.12
Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12
Intact fetal cells in maternal plasma: are they really there? Lancet (2003) 2.09
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med (2013) 2.08
Budding yeast Wpl1(Rad61)-Pds5 complex counteracts sister chromatid cohesion-establishing reaction. Curr Biol (2009) 2.08
Syndecan recycling [corrected] is controlled by syntenin-PIP2 interaction and Arf6. Dev Cell (2005) 2.08
Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J Hum Genet (2010) 2.06
Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A (2012) 2.05
The defective prophage pool of Escherichia coli O157: prophage-prophage interactions potentiate horizontal transfer of virulence determinants. PLoS Pathog (2009) 2.04
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A (2007) 2.01
Outcome of childhood acute lymphoblastic leukaemia in resource-poor countries. Lancet (2003) 2.00
PRDM14 ensures naive pluripotency through dual regulation of signaling and epigenetic pathways in mouse embryonic stem cells. Cell Stem Cell (2013) 1.96
Chromosome length influences replication-induced topological stress. Nature (2011) 1.95