Published in Annu Rev Genomics Hum Genet on January 01, 2007
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell (2011) 8.46
The genomic architecture of segmental duplications and associated copy number variants in dogs. Genome Res (2009) 2.44
Analysis of copy number variations among diverse cattle breeds. Genome Res (2010) 2.02
Ohnologs in the human genome are dosage balanced and frequently associated with disease. Proc Natl Acad Sci U S A (2010) 2.02
A genome triplication associated with early diversification of the core eudicots. Genome Biol (2012) 1.80
Bacterial gene amplification: implications for the evolution of antibiotic resistance. Nat Rev Microbiol (2009) 1.73
Synaptic scaffold evolution generated components of vertebrate cognitive complexity. Nat Neurosci (2012) 1.67
High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution. PLoS Genet (2008) 1.60
Cortical evolution: judge the brain by its cover. Neuron (2013) 1.54
Detection and correction of false segmental duplications caused by genome mis-assembly. Genome Biol (2010) 1.54
Analysis of recent segmental duplications in the bovine genome. BMC Genomics (2009) 1.36
The current excitement about copy-number variation: how it relates to gene duplications and protein families. Curr Opin Struct Biol (2008) 1.36
Convergent gene loss following gene and genome duplications creates single-copy families in flowering plants. Proc Natl Acad Sci U S A (2013) 1.35
Small-scale copy number variation and large-scale changes in gene expression. Proc Natl Acad Sci U S A (2008) 1.20
Defects in translational regulation contributing to human cognitive and behavioral disease. Curr Opin Genet Dev (2011) 1.09
Asymmetric and non-uniform evolution of recently duplicated human genes. Biol Direct (2010) 1.07
Segmental duplications contribute to gene expression differences between humans and chimpanzees. Genetics (2009) 1.06
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol (2008) 1.04
On the origins of Mendelian disease genes in man: the impact of gene duplication. Mol Biol Evol (2011) 1.01
TRIM22: A Diverse and Dynamic Antiviral Protein. Mol Biol Int (2012) 1.01
The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues. BMC Genomics (2010) 0.98
Preferential regulation of duplicated genes by microRNAs in mammals. Genome Biol (2008) 0.96
Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility. PLoS One (2010) 0.93
Exploring the potential relevance of human-specific genes to complex disease. Hum Genomics (2011) 0.93
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. Mol Cytogenet (2014) 0.93
Germline mutation analysis of STK11 gene using direct sequencing and multiplex ligation-dependent probe amplification assay in Korean children with Peutz-Jeghers syndrome. Dig Dis Sci (2010) 0.92
Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization. Methods (2009) 0.91
An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate. Genetics (2008) 0.89
CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome. Front Cell Neurosci (2014) 0.89
Genetics of dopamine receptors and drug addiction. Hum Genet (2012) 0.89
Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol (2012) 0.87
Gene duplication and ectopic gene conversion in Drosophila. Genes (Basel) (2011) 0.84
Tempo and mode of gene duplication in mammalian ribosomal protein evolution. PLoS One (2014) 0.84
Microduplication of 3p26.3 implicated in cognitive development. Case Rep Genet (2014) 0.84
Generation of divergent uroplakin tetraspanins and their partners during vertebrate evolution: identification of novel uroplakins. BMC Evol Biol (2014) 0.83
Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. BMC Bioinformatics (2014) 0.83
Quality assessment of human mitochondrial DNA quantification: MITONAUTS, an international multicentre survey. Mitochondrion (2011) 0.82
An evolutionary perspective on protein moonlighting. Biochem Soc Trans (2014) 0.82
Insights into the miRNA regulations in human disease genes. BMC Genomics (2014) 0.82
Gene-environment interactions in chronic obstructive pulmonary disease. Int J Chron Obstruct Pulmon Dis (2008) 0.81
Specific replication origins promote DNA amplification in fission yeast. J Cell Sci (2010) 0.81
Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene-environment interactions. J Hum Genet (2015) 0.80
CHRFAM7A: a human-specific α7-nicotinic acetylcholine receptor gene shows differential responsiveness of human intestinal epithelial cells to LPS. FASEB J (2015) 0.80
Temporal and spatial dynamics of scaling-specific features of a gene regulatory network in Drosophila. Nat Commun (2015) 0.80
Lineage-specific duplications of Muroidea Faim and Spag6 genes and atypical accelerated evolution of the parental Spag6 gene. J Mol Evol (2013) 0.80
A Genome-Wide Landscape of Retrocopies in Primate Genomes. Genome Biol Evol (2015) 0.79
The plant proteome folding project: structure and positive selection in plant protein families. Genome Biol Evol (2012) 0.79
Modular evolution of PGC-1alpha in vertebrates. J Mol Evol (2010) 0.79
Evolutionary dynamics of human autoimmune disease genes and malfunctioned immunological genes. BMC Evol Biol (2012) 0.78
Epigenomic programming contributes to the genomic drift evolution of the F-Box protein superfamily in Arabidopsis. Proc Natl Acad Sci U S A (2013) 0.78
Analysis of IS1236-mediated gene amplification events in Acinetobacter baylyi ADP1. J Bacteriol (2012) 0.78
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion. Hum Mol Genet (2015) 0.78
Molecular phylogeny of OVOL genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions. PLoS One (2012) 0.78
Down syndrome and the complexity of genome dosage imbalance. Nat Rev Genet (2016) 0.77
The phenotypic impact of the male-specific region of chromosome-Y in inbred mating: the role of genetic variants and gene duplications in multiple inbred rat strains. Biol Sex Differ (2016) 0.77
Structural divergence in vertebrate phylogeny of a duplicated prototype galectin. Genome Biol Evol (2014) 0.77
Evolving promiscuously. Proc Natl Acad Sci U S A (2011) 0.77
Sequence analyses of the distal-less homeobox gene family in East African cichlid fishes reveal signatures of positive selection. BMC Evol Biol (2013) 0.77
Absolute copy number differences of Y chromosomal genes between crossbred (Bos taurus × Bos indicus) and Indicine bulls. J Anim Sci Biotechnol (2013) 0.77
Functional diversification and specialization of cytosolic 70-kDa heat shock proteins. Sci Rep (2015) 0.77
Comparing the retention mechanisms of tandem duplicates and retrogenes in human and mouse genomes. Genet Sel Evol (2010) 0.77
Evolution of Social Insect Polyphenism Facilitated by the Sex Differentiation Cascade. PLoS Genet (2016) 0.77
Distal substitutions drive divergent DNA specificity among paralogous transcription factors through subdivision of conformational space. Proc Natl Acad Sci U S A (2015) 0.76
Differences in the number of intrinsically disordered regions between yeast duplicated proteins, and their relationship with functional divergence. PLoS One (2011) 0.76
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus. JIMD Rep (2014) 0.75
Genome-wide identification and functional analysis of the TIFY gene family in response to drought in cotton. Mol Genet Genomics (2016) 0.75
Evolutionary history of glucose-6-phosphatase encoding genes in vertebrate lineages: towards a better understanding of the functions of multiple duplicates. BMC Genomics (2017) 0.75
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review. Mol Cytogenet (2016) 0.75
Genome Wide Identification, Phylogeny, and Expression of Aquaporin Genes in Common Carp (Cyprinus carpio). PLoS One (2016) 0.75
A role for Rtt109 in buffering gene-dosage imbalance during DNA replication. Nucleus (2016) 0.75
Expression of a Novel D4 Dopamine Receptor in the Lamprey Brain. Evolutionary Considerations about Dopamine Receptors. Front Neuroanat (2016) 0.75
Subfunctionalization of peroxisome proliferator response elements accounts for retention of duplicated fabp1 genes in zebrafish. BMC Evol Biol (2016) 0.75
The ace-1 Locus Is Amplified in All Resistant Anopheles gambiae Mosquitoes: Fitness Consequences of Homogeneous and Heterogeneous Duplications. PLoS Biol (2016) 0.75
Functional consequence of the STK11 exon 7 duplication mutation identified in a Korean child with Peutz-Jeghers syndrome. Dig Dis Sci (2011) 0.75
Dosage-sensitive genes in evolution and disease. BMC Biol (2017) 0.75
Evolutionary Diversification of Alanine Transaminases in Yeast: Catabolic Specialization and Biosynthetic Redundancy. Front Microbiol (2017) 0.75
β2-microglobulin gene duplication in cetartiodactyla remains intact only in pigs and possibly confers selective advantage to the species. PLoS One (2017) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Landscape of transcription in human cells. Nature (2012) 20.18
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
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
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
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
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38
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
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
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
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
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
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
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
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
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
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
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A (2005) 2.56
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2002) 2.21
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci (2005) 2.21
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (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
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet (2005) 1.96
Early history of mammals is elucidated with the ENCODE multiple species sequencing data. PLoS Genet (2007) 1.92
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Nineteen additional unpredicted transcripts from human chromosome 21. Genomics (2002) 1.80
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism. Nature (2010) 1.78
Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
DNA methylation profiles of human active and inactive X chromosomes. Genome Res (2011) 1.68
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67
Efficient targeted transcript discovery via array-based normalization of RACE libraries. Nat Methods (2008) 1.66
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Res (2014) 1.63
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med (2011) 1.62
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat (2004) 1.61
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. J Biol Chem (2005) 1.60
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet (2002) 1.58
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. Genome Res (2013) 1.58
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proc Natl Acad Sci U S A (2008) 1.54
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet (2008) 1.45
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. J Immunol (2009) 1.32
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet (2009) 1.32
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. EMBO Mol Med (2013) 1.30
Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements. Proc Natl Acad Sci U S A (2007) 1.28
Identifying protein-coding genes in genomic sequences. Genome Biol (2009) 1.26
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A (2006) 1.23
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biol (2008) 1.22
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Hum Mutat (2008) 1.21
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. Hum Mol Genet (2004) 1.21
Gene finding in the chicken genome. BMC Bioinformatics (2005) 1.20
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet (2009) 1.20
Functional genetic variation of human miRNAs and phenotypic consequences. Mamm Genome (2008) 1.20
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. Cancer Res (2012) 1.19
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (Berl) (2001) 1.19
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. Hum Mol Genet (2005) 1.18
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet (2013) 1.17
Evidence for transcript networks composed of chimeric RNAs in human cells. PLoS One (2012) 1.16
The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene (2003) 1.16
Down syndrome: from understanding the neurobiology to therapy. J Neurosci (2010) 1.13
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet (2013) 1.13
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. Eur J Hum Genet (2012) 1.12
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet (2006) 1.12
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet (2011) 1.10
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PLoS One (2011) 1.09
Mutation nomenclature. Curr Protoc Hum Genet (2003) 1.08
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat (2014) 1.08
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol (2008) 1.07
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood (2003) 1.04
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet (2005) 1.04
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat (2005) 1.03
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry (2006) 1.02
The role of biobanking in rare diseases: European consensus expert group report. Biopreserv Biobank (2009) 1.02
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
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome. Psychiatry Res (2012) 1.00
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. Hum Mol Genet (2010) 1.00
Regulation of fibrinogen production by microRNAs. Blood (2010) 0.99
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet (2012) 0.99
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet (2005) 0.97
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res (2010) 0.97