Published in Nat Rev Genet on October 01, 2004
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An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science (2005) 3.61
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
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Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. Blood (2010) 1.08
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Dyrk1A phosphorylates p53 and inhibits proliferation of embryonic neuronal cells. J Biol Chem (2010) 1.02
Effects of aneuploidy on skull growth in a mouse model of Down syndrome. J Anat (2007) 1.02
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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes. BMC Genomics (2011) 1.00
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Emerging pharmacotherapies for neurodevelopmental disorders. J Dev Behav Pediatr (2010) 0.99
Lowering beta-amyloid levels rescues learning and memory in a Down syndrome mouse model. PLoS One (2010) 0.97
Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development. BMC Genomics (2009) 0.97
Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2. PLoS One (2010) 0.96
Mouse models for Down syndrome-associated developmental cognitive disabilities. Dev Neurosci (2011) 0.95
Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? Curr Genomics (2010) 0.94
Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome. Cell Death Differ (2009) 0.94
Trisomy of the G protein-coupled K+ channel gene, Kcnj6, affects reward mechanisms, cognitive functions, and synaptic plasticity in mice. Proc Natl Acad Sci U S A (2012) 0.94
Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks. BMC Genomics (2014) 0.93
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res (2013) 0.92
Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes. Dev Neurosci (2011) 0.92
Increased dosage of DYRK1A and DSCR1 delays neuronal differentiation in neocortical progenitor cells. Genes Dev (2013) 0.92
Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome. Exp Neurol (2011) 0.91
Aneuploidy causes premature differentiation of neural and intestinal stem cells. Nat Commun (2015) 0.90
In vivo MRI identifies cholinergic circuitry deficits in a Down syndrome model. Neurobiol Aging (2008) 0.89
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res (2007) 0.89
Induced pluripotent stem cells to model and treat neurogenetic disorders. Neural Plast (2012) 0.88
MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome. Front Cell Neurosci (2013) 0.87
Molecular underpinnings of prefrontal cortex development in rodents provide insights into the etiology of neurodevelopmental disorders. Mol Psychiatry (2014) 0.87
Unraveling the complexity of neurodegeneration in brains of subjects with Down syndrome: insights from proteomics. Proteomics Clin Appl (2014) 0.86
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biol (2010) 0.86
Low bone turnover and low BMD in Down syndrome: effect of intermittent PTH treatment. PLoS One (2012) 0.86
Faithful tissue-specific expression of the human chromosome 21-linked COL6A1 gene in BAC-transgenic mice. Mamm Genome (2007) 0.86
Attention deficits predict phenotypic outcomes in syndrome-specific and domain-specific ways. Front Psychol (2012) 0.85
An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model. BMC Dev Biol (2007) 0.85
The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model. PLoS Genet (2012) 0.85
Antioxidants in Down syndrome. Biochim Biophys Acta (2011) 0.85
Dendritic spine dysgenesis in autism related disorders. Neurosci Lett (2015) 0.85
Sporadic aneuploidy in PHA-stimulated lymphocytes of Turner's syndrome patients. Chromosome Res (2006) 0.83
Age-related neurodegeneration and memory loss in down syndrome. Curr Gerontol Geriatr Res (2012) 0.83
Developmentally altered inhibition in Ts65Dn, a mouse model of Down syndrome. Brain Res (2012) 0.83
Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status. PLoS One (2010) 0.82
Thoughts on aneuploidy. Cold Spring Harb Symp Quant Biol (2011) 0.82
Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome. Mol Cell Proteomics (2008) 0.82
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New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome. Exp Neurobiol (2013) 0.82
Genome-wide gene expression perturbation induced by loss of C2 chromosome in allotetraploid Brassica napus L. Front Plant Sci (2015) 0.82
Gene expression dynamics in deer antler: mesenchymal differentiation toward chondrogenesis. Mol Genet Genomics (2006) 0.81
Down syndrome-associated haematopoiesis abnormalities created by chromosome transfer and genome editing technologies. Sci Rep (2014) 0.81
Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix. Proteome Sci (2009) 0.81
Genome-wide linkage analysis for ocular and nasal anthropometric traits in a Mongolian population. Exp Mol Med (2010) 0.81
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ. Eur J Hum Genet (2013) 0.81
CaMKII and stress mix it up in mitochondria. Front Pharmacol (2014) 0.81
Expression of the DYRK1A gene correlates with its 3D positioning in the interphase nucleus of Down syndrome cells. Chromosome Res (2015) 0.80
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration. Stem Cells (2015) 0.80
Concise review: new paradigms for Down syndrome research using induced pluripotent stem cells: tackling complex human genetic disease. Stem Cells Transl Med (2013) 0.80
DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome. Front Behav Neurosci (2016) 0.79
Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS). BMC Med Genomics (2014) 0.79
Stem and progenitor cell dysfunction in human trisomies. EMBO Rep (2014) 0.79
Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1). Mamm Genome (2012) 0.79
Genetic dissection of the Down syndrome critical region. Hum Mol Genet (2015) 0.79
Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy. PLoS One (2014) 0.79
SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome. Genet Test Mol Biomarkers (2012) 0.78
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. PLoS One (2015) 0.78
Aneuploidy. Curr Biol (2015) 0.78
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Population genomics of human gene expression. Nat Genet (2007) 24.49
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Landscape of transcription in human cells. Nature (2012) 20.18
GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res (2012) 19.19
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
Transcriptome genetics using second generation sequencing in a Caucasian population. Nature (2010) 14.85
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
EGASP: the human ENCODE Genome Annotation Assessment Project. Genome Biol (2006) 7.06
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet (2010) 4.95
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet (2005) 4.79
Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics (2010) 4.56
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res (2007) 4.33
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
The GENCODE pseudogene resource. Genome Biol (2012) 4.18
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet (2012) 4.05
Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet (2005) 3.97
The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A (2007) 3.93
Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res (2005) 3.89
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science (2003) 3.77
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A (2003) 3.73
Genome variation and evolution of the malaria parasite Plasmodium falciparum. Nat Genet (2006) 3.68
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biol (2007) 3.54
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat Genet (2011) 3.20
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
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Segmental copy number variation shapes tissue transcriptomes. Nat Genet (2009) 2.95
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
A genome-wide association study of testicular germ cell tumor. Nat Genet (2009) 2.79
Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling. Cell (2012) 2.75
Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife (2013) 2.70
Structured RNAs in the ENCODE selected regions of the human genome. Genome Res (2007) 2.69
Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription. Science (2013) 2.66
Copy number variants, diseases and gene expression. Hum Mol Genet (2009) 2.66
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res (2004) 2.58
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet (2013) 2.40
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet (2010) 2.35
Large-scale population study of human cell lines indicates that dosage compensation is virtually complete. PLoS Genet (2007) 2.27
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome. Genome Res (2012) 2.13
The genetics of regulatory variation in the human genome. Hum Genomics (2005) 2.05
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet (2004) 1.97
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From expression QTLs to personalized transcriptomics. Nat Rev Genet (2011) 1.94
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet (2011) 1.84
Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet (2008) 1.82
Nineteen additional unpredicted transcripts from human chromosome 21. Genomics (2002) 1.80
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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Cancer Cell (2010) 1.78
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An immune response network associated with blood lipid levels. PLoS Genet (2010) 1.74
From gene expression to disease risk. Nat Genet (2008) 1.69
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67