Published in Nature on December 05, 2002
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
The mouse Gene Expression Database (GXD): updates and enhancements. Nucleic Acids Res (2004) 7.26
EGASP: the human ENCODE Genome Annotation Assessment Project. Genome Biol (2006) 7.06
Functions and regulation of RNA editing by ADAR deaminases. Annu Rev Biochem (2010) 5.99
Promoter features related to tissue specificity as measured by Shannon entropy. Genome Biol (2005) 5.19
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
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
Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res (2005) 3.89
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
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
The mouse Gene Expression Database (GXD): 2007 update. Nucleic Acids Res (2006) 3.30
Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome. Genome Res (2004) 2.29
A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain. BMC Dev Biol (2005) 2.08
Pseudogenes: pseudo-functional or key regulators in health and disease? RNA (2011) 2.00
A digital atlas to characterize the mouse brain transcriptome. PLoS Comput Biol (2005) 1.78
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
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Targeted deletion of kcne2 impairs ventricular repolarization via disruption of I(K,slow1) and I(to,f). FASEB J (2008) 1.54
One hundred years of mouse genetics: an intellectual history. II. The molecular revolution (1981-2002). Genetics (2003) 1.53
The ETS transcription factor GABPalpha is essential for early embryogenesis. Mol Cell Biol (2004) 1.46
High-throughput screen for genes predominantly expressed in the ICM of mouse blastocysts by whole mount in situ hybridization. Gene Expr Patterns (2005) 1.43
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Systems biology of SNPs. Mol Syst Biol (2006) 1.35
The secreted metalloprotease ADAMTS20 is required for melanoblast survival. PLoS Genet (2008) 1.34
Biodiversity of voltage sensor domain proteins. Pflugers Arch (2007) 1.30
Transcriptional regulation of the SCL locus: identification of an enhancer that targets the primitive erythroid lineage in vivo. Mol Cell Biol (2005) 1.16
A geometric database for gene expression data. Symp Geom Process (2003) 1.15
Comparison of diverse developmental transcriptomes reveals that coexpression of gene neighbors is not evolutionarily conserved. Genome Res (2009) 1.08
Voltage sensitive phosphoinositide phosphatases of Xenopus: their tissue distribution and voltage dependence. J Cell Physiol (2011) 1.07
The proteins of human chromosome 21. Am J Med Genet C Semin Med Genet (2006) 1.07
Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. BMC Genomics (2006) 1.04
Mining the mouse genome. Nature (2002) 1.03
S100B Protein Regulates Astrocyte Shape and Migration via Interaction with Src Kinase: IMPLICATIONS FOR ASTROCYTE DEVELOPMENT, ACTIVATION, AND TUMOR GROWTH. J Biol Chem (2009) 1.01
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Nucleic Acids Res (2005) 1.01
Evolution of a core gene network for skeletogenesis in chordates. PLoS Genet (2008) 1.00
Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes. BMC Genomics (2011) 1.00
Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. Nucleic Acids Res (2003) 0.96
Coordinated evolution of co-expressed gene clusters in the Drosophila transcriptome. BMC Evol Biol (2008) 0.96
The master mammal. Nat Biotechnol (2003) 0.93
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus. PLoS One (2010) 0.93
Down syndrome, autoimmunity and T regulatory cells. Clin Exp Immunol (2012) 0.92
Expression of S100B during embryonic development of the mouse cerebellum. BMC Dev Biol (2007) 0.91
The systematic functional characterisation of Xq28 genes prioritises candidate disease genes. BMC Genomics (2006) 0.90
Trefoil factor family peptide 2 acts pro-proliferative and pro-apoptotic in the murine retina. Histochem Cell Biol (2011) 0.89
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res (2007) 0.89
Evolution of the voltage sensor domain of the voltage-sensitive phosphoinositide phosphatase VSP/TPTE suggests a role as a proton channel in eutherian mammals. Mol Biol Evol (2012) 0.86
Characterizing embryonic gene expression patterns in the mouse using nonredundant sequence-based selection. Genome Res (2003) 0.86
Regulation of SIK1 abundance and stability is critical for myogenesis. Proc Natl Acad Sci U S A (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
Expression profiling of the mouse early embryo: reflections and perspectives. Dev Dyn (2006) 0.84
The spatio-temporal expression pattern of cytoplasmic Cu/Zn superoxide dismutase (SOD1) mRNA during mouse embryogenesis. J Mol Histol (2007) 0.84
A golden age of brain exploration. PLoS Biol (2005) 0.83
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient. PLoS One (2010) 0.83
Phosphoinositide 5- and 3-phosphatase activities of a voltage-sensing phosphatase in living cells show identical voltage dependence. Proc Natl Acad Sci U S A (2016) 0.83
Phosphorylation of MAK-V protein kinase in mammalian cells. Dokl Biochem Biophys (2007) 0.82
A human phospholipid phosphatase activated by a transmembrane control module. J Lipid Res (2012) 0.81
Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition. PLoS One (2012) 0.80
Apoptosis screening of human chromosome 21 proteins reveals novel cell death regulators. Mol Biol Rep (2009) 0.79
Interspecific chromosome-wide transcription profiles reveal the existence of mammalian-specific and species-specific chromosome domains. J Mol Evol (2004) 0.79
A digital atlas of ion channel expression patterns in the two-week-old rat brain. Neuroinformatics (2015) 0.79
RNAi screening with shRNAs against histone methylation-related genes reveals determinants of sorafenib sensitivity in hepatocellular carcinoma cells. Int J Clin Exp Pathol (2014) 0.78
The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model. BMC Dev Biol (2015) 0.77
Characterization of the Functional Domains of a Mammalian Voltage-Sensitive Phosphatase. Biophys J (2015) 0.76
Cloning and developmental expression of MARK/Par-1/MELK-related protein kinase xMAK-V in Xenopus laevis. Dev Genes Evol (2004) 0.76
Neuropeptide Trefoil Factor 3 Reverses Depressive-Like Behaviors by Activation of BDNF-ERK-CREB Signaling in Olfactory Bulbectomized Rats. Int J Mol Sci (2015) 0.76
Functional genomics: a time and place for every gene. Nature (2002) 0.75
The mouse genome sequence--the end of the tail, or just the beginning? Genome Biol (2003) 0.75
Mouse models in bone marrow transplantation and adoptive cellular therapy. Semin Hematol (2013) 0.75
Classification of topological domains based on gene expression and regulation. Genome (2013) 0.75
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
Genome-wide atlas of gene expression in the adult mouse brain. Nature (2006) 28.02
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
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
Landscape of transcription in human cells. Nature (2012) 20.18
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
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
Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med (2008) 17.21
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
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
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
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
TFEB links autophagy to lysosomal biogenesis. Science (2011) 8.87
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
A gene network regulating lysosomal biogenesis and function. Science (2009) 7.17
EGASP: the human ENCODE Genome Annotation Assessment Project. Genome Biol (2006) 7.06
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet (2009) 6.71
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res (2004) 5.45
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
A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J (2012) 5.03
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
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
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
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet (2007) 3.98
Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet (2005) 3.97
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther (2009) 3.93
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
The European dimension for the mouse genome mutagenesis program. Nat Genet (2004) 3.84
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
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet (2004) 3.58
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
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
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
Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol (2013) 3.13
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet (2003) 2.83
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
Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell (2011) 2.71
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell (2003) 2.71