Long-range control of gene expression: emerging mechanisms and disruption in disease.
paper
Cited
Public
Unavailable
- Authors
- Kleinjan, Dirk A; van Heyningen, Veronica
- Year
- 2005
- Journal
- American journal of human genetics
- PMID
- 15549674
- DOI
- 10.1086/426833
- PMCID
- PMC1196435
Transcriptional control is a major mechanism for regulating gene expression. The complex machinery required to effect this control is still emerging from functional and evolutionary analysis of genomic architecture. In addition to the promoter, many other regulatory elements are required for spatiotemporally and quantitatively correct gene expression. Enhancer and repressor elements may reside in introns or up- and downstream of the transcription unit. For some genes with highly complex expression patterns--often those that function as key developmental control genes--the cis-regulatory domain can extend long distances outside the transcription unit. Some of the earliest hints of this came from disease-associated chromosomal breaks positioned well outside the relevant gene. With the availability of wide-ranging genome sequence comparisons, strong conservation of many noncoding regions became obvious. Functional studies have shown many of these conserved sites to be transcriptional regulatory elements that sometimes reside inside unrelated neighboring genes. Such sequence-conserved elements generally harbor sites for tissue-specific DNA-binding proteins. Developmentally variable chromatin conformation can control protein access to these sites and can regulate transcription. Disruption of these finely tuned mechanisms can cause disease. Some regulatory element mutations will be associated with phenotypes distinct from any identified for coding-region mutations.
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| Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. | Bhatia S et al. | β | 2014 | β |
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| Fine-scale population epigenetic structure in relation to gastrointestinal parasite load in red grouse (Lagopus lagopus scotica). | Wenzel MA et al. | β | 2014 | β |
| Functional importance of cardiac enhancer-associated noncoding RNAs in heart development and disease. | Ounzain S et al. | β | 2014 | β |
| Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. | Germain ND et al. | β | 2014 | β |
| Gene regulatory elements of the cardiac conduction system. | van Duijvenboden K et al. | β | 2014 | β |
| Genetics of sudden cardiac death caused by ventricular arrhythmias. | Marsman RF et al. | β | 2014 | β |
| Genetic variation rs10484761 on 6p21.1 derived from a genome-wide association study is associated with gastric cancer survival in a Chinese population. | Kang M et al. | β | 2014 | β |
| Genome-wide analysis of functional and evolutionary features of tele-enhancers. | Huang D et al. | β | 2014 | β |
| Human cytochrome P450 epoxygenases: variability in expression and role in inflammation-related disorders. | Shahabi P et al. | β | 2014 | β |
| Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2). | Liu X et al. | β | 2014 | β |
| In pursuit of design principles of regulatory sequences. | Levo M et al. | β | 2014 | β |
| In search of the determinants of enhancer-promoter interaction specificity. | van Arensbergen J et al. | β | 2014 | β |
| Long non-coding RNA in health and disease. | Maass PG et al. | β | 2014 | β |
| Modeling gene expression evolution with an extended Ornstein-Uhlenbeck process accounting for within-species variation. | Rohlfs RV et al. | β | 2014 | β |
| New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene. | Crippa M et al. | β | 2014 | β |
| PFP1, a gene encoding an Epc-N domain-containing protein, is essential for pathogenicity of the barley pathogen Rhynchosporium commune. | Siersleben S et al. | β | 2014 | β |
| Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping. | de Vree PJ et al. | β | 2014 | β |
| The CpG island encompassing the promoter and first exon of human DNMT3L gene is a PcG/TrX response element (PRE). | Basu A et al. | β | 2014 | β |
| The genetics of Mullerian aplasia. | Layman LC | β | 2014 | β |
| The genome in three dimensions: a new frontier in human brain research. | Mitchell AC et al. | β | 2014 | β |
| The impact of chromosomal rearrangements on regulation of gene expression. | Harewood L et al. | β | 2014 | β |
| A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. | Guilherme RS et al. | β | 2013 | β |
| A potential suppressive effect of natural antisense IL-1Ξ² RNA on lipopolysaccharide-induced IL-1Ξ² expression. | Lu J et al. | β | 2013 | β |
| A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse. | Lugani F et al. | β | 2013 | β |
| Beyond the ENCODE project: using genomics and epigenomics strategies to study enhancer evolution. | Sakabe NJ et al. | β | 2013 | β |
| CD14 C-159T polymorphism and its association with chronic lung diseases: A pilot study on isocyanate exposed population of Central India. | Bose P et al. | β | 2013 | β |
| Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. | Bayot A et al. | β | 2013 | β |
| Classification of topological domains based on gene expression and regulation. | Zhao J et al. | β | 2013 | β |
| Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions. | Rosin JM et al. | β | 2013 | β |
| copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer. | Kuusisto KM et al. | β | 2013 | β |
| Epigenetics in the human brain. | Houston I et al. | β | 2013 | β |
| Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients. | Busch M et al. | β | 2013 | β |
| Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data. | Dekker J et al. | β | 2013 | β |
| Expression of mRNA transcripts encoding membrane transporters detected with whole transcriptome sequencing of human brain and liver. | Webb A et al. | β | 2013 | β |
| Familial complex chromosome rearrangement (CCR) involving 5 breakpoints on chromosomes 1, 3 and 13 in a severe oligozoospermic patient. | Li L et al. | β | 2013 | β |
| Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. | Amarillo IE et al. | β | 2013 | β |
| From remote enhancers to gene regulation: charting the genome's regulatory landscapes. | Symmons O et al. | β | 2013 | β |
| Genome architecture is a selectable trait that can be maintained by antagonistic pleiotropy. | Avelar AT et al. | β | 2013 | β |
| Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. | Lee YJ et al. | β | 2013 | β |
| Handling realistic assumptions in hypothesis testing of 3D co-localization of genomic elements. | Paulsen J et al. | β | 2013 | β |
| Human genetic variation within neural crest enhancers: molecular and phenotypic implications. | Rada-Iglesias A et al. | β | 2013 | β |
| Identical cells with different 3D genomes; cause and consequences? | Krijger PH et al. | β | 2013 | β |
| Identification of biologically relevant enhancers in human erythroid cells. | Su MY et al. | β | 2013 | β |
| Insights on the functional impact of microRNAs present in autism-associated copy number variants. | Vaishnavi V et al. | β | 2013 | β |
| Meis1 regulates Foxn4 expression during retinal progenitor cell differentiation. | Islam MM et al. | β | 2013 | β |
| Melanocortin-4 receptor in energy homeostasis and obesity pathogenesis. | Hinney A et al. | β | 2013 | β |
| Phenotypic impact of genomic structural variation: insights from and for human disease. | Weischenfeldt J et al. | β | 2013 | β |
| Recent human adaptation: genomic approaches, interpretation and insights. | Scheinfeldt LB et al. | β | 2013 | β |
| Regulation from a distance: long-range control of gene expression in development and disease. | van Heyningen V et al. | β | 2013 | β |
| Schizophrenia two-hit hypothesis in velo-cardio facial syndrome. | Williams HJ et al. | β | 2013 | β |
| Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. | Szafranski P et al. | β | 2013 | β |
| The hierarchy of the 3D genome. | Gibcus JH et al. | β | 2013 | β |
| The role of MyoD1 and histone modifications in the activation of muscle enhancers. | Blum R et al. | β | 2013 | β |
| The spatial organization of the human genome. | Bickmore WA | β | 2013 | β |
| Topology of mammalian developmental enhancers and their regulatory landscapes. | de Laat W et al. | β | 2013 | β |
| TRACER: a resource to study the regulatory architecture of the mouse genome. | Chen CK et al. | β | 2013 | β |
| Two new de novo interstitial duplications covering 2p14-p22.1: clinical and molecular analysis. | Kasnauskiene J et al. | β | 2013 | β |
| Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance. | He H et al. | β | 2013 | β |
| 29 mammalian genomes reveal novel exaptations of mobile elements for likely regulatory functions in the human genome. | Lowe CB et al. | β | 2012 | β |
| A misplaced lncRNA causes brachydactyly in humans. | Maass PG et al. | β | 2012 | β |
| A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. | Casey JP et al. | β | 2012 | β |
| Chromatin loops, gene positioning, and gene expression. | Holwerda S et al. | β | 2012 | β |
| Comparative studies of gene expression and the evolution of gene regulation. | Romero IG et al. | β | 2012 | β |
| De novo copy number variants are associated with congenital diaphragmatic hernia. | Yu L et al. | β | 2012 | β |
| De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum. | Shimojima K et al. | β | 2012 | β |
| Differential coexpression analysis of obesity-associated networks in human subcutaneous adipose tissue. | Walley AJ et al. | β | 2012 | β |
| Dissecting the regulatory architecture of gene expression QTLs. | Gaffney DJ et al. | β | 2012 | β |
| Enhancer chip: detecting human copy number variations in regulatory elements. | Savarese M et al. | β | 2012 | β |
| Evaluation of Parkinson disease risk variants as expression-QTLs. | Latourelle JC et al. | β | 2012 | β |
| Evaluation of the role of functional constraints on the integrity of an ultraconserved region in the genus Drosophila. | DΓaz-Castillo C et al. | β | 2012 | β |
| Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability. | Bonnet C et al. | β | 2012 | β |
| Forkhead box protein p1 is a transcriptional repressor of immune signaling in the CNS: implications for transcriptional dysregulation in Huntington disease. | Tang B et al. | β | 2012 | β |
| From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. | Baxter AG et al. | β | 2012 | β |
| Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. | Zhao L et al. | β | 2012 | β |
| Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. | Funalot B et al. | β | 2012 | β |
| Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus. | Montavon T et al. | β | 2012 | β |
| Interpreting noncoding genetic variation in complex traits and human disease. | Ward LD et al. | β | 2012 | β |
| Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype. | Finelli P et al. | β | 2012 | β |
| Massively parallel functional dissection of mammalian enhancers in vivo. | Patwardhan RP et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. | Barbaro M et al. | β | 2012 | β |
| Pax6: a multi-level regulator of ocular development. | Shaham O et al. | β | 2012 | β |
| Pharmacogene regulatory elements: from discovery to applications. | Smith RP et al. | β | 2012 | β |
| Phenotypic variability of atypical 22q11.2 deletions not including TBX1. | Verhagen JM et al. | β | 2012 | β |
| Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. | Delahaye A et al. | β | 2012 | β |
| Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals. | Baral A et al. | β | 2012 | β |
| Segment-wise genome-wide association analysis identifies a candidate region associated with schizophrenia in three independent samples. | Gladwin TE et al. | β | 2012 | β |
| Shadow enhancers: frequently asked questions about distributed cis-regulatory information and enhancer redundancy. | Barolo S | β | 2012 | β |
| Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1. | Jentarra GM et al. | β | 2012 | β |
| Sparkling insights into enhancer structure, function, and evolution. | Evans NC et al. | β | 2012 | β |
| Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder. | Saxena V et al. | β | 2012 | β |
| Testis-specific protein Y-encoded copy number is correlated to its expression and the field fertility of Canadian Holstein bulls. | Hamilton CK et al. | β | 2012 | β |
| The cell adhesion gene PVRL3 is associated with congenital ocular defects. | Lachke SA et al. | β | 2012 | β |
| The structural basis for the oligomerization of the N-terminal domain of SATB1. | Wang Z et al. | β | 2012 | β |
| Tissue of origin determines cancer-associated CpG island promoter hypermethylation patterns. | Sproul D et al. | β | 2012 | β |
| Transcriptional enhancers in development and disease. | Sakabe NJ et al. | β | 2012 | β |
| Transcriptional regulation of the GLAST/EAAT-1 gene in rat and man. | Unger T et al. | β | 2012 | β |
| Using mouse models to study function of transcriptional factors in T cell development. | Li P et al. | β | 2012 | β |
| Zebrafish as a genomics model for human neurological and polygenic disorders. | Becker TS et al. | β | 2012 | β |
| Ξ²-Catenin and peroxisome proliferator-activated receptor-Ξ΄ coordinate dynamic chromatin loops for the transcription of vascular endothelial growth factor A gene in colon cancer cells. | Hwang I et al. | β | 2012 | β |
| 5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. | Carr CW et al. | β | 2011 | β |
| A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia. | Northup JK et al. | β | 2011 | β |
| A liver enhancer in the fibrinogen gene cluster. | Fort A et al. | β | 2011 | β |
| Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. | Okada T et al. | β | 2011 | β |
| A principal components-based clustering method to identify variants associated with complex traits. | Black MH et al. | β | 2011 | β |
| Association of CD14 -260 (-159) C>T and asthma: a systematic review and meta-analysis. | Zhao L et al. | β | 2011 | β |
| Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing. | Sobreira NL et al. | β | 2011 | β |
| Chromosomal copy number alterations are associated with tumor response to chemoradiation in locally advanced rectal cancer. | Chen Z et al. | β | 2011 | β |
| Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergence. | Wittkopp PJ et al. | β | 2011 | β |
| [Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence]. | Benko S et al. | β | 2011 | β |
| Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly. | Liao HM et al. | β | 2011 | β |
| Completely phased genome sequencing through chromosome sorting. | Yang H et al. | β | 2011 | β |
| Copy-number variations, noncoding sequences, and human phenotypes. | Klopocki E et al. | β | 2011 | β |
| Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. | Kurban M et al. | β | 2011 | β |
| DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region. | McBride DJ et al. | β | 2011 | β |
| DT40 knock-out and knock-in studies determine the regions necessary and sufficient for transcription and epigenetic conversion of the chicken Ig-Ξ² gene. | Itaya K et al. | β | 2011 | β |
| Enhancer function: new insights into the regulation of tissue-specific gene expression. | Ong CT et al. | β | 2011 | β |
| Eos negatively regulates human Ξ³-globin gene transcription during erythroid differentiation. | Yu HC et al. | β | 2011 | β |
| Familial ventricular aneurysms and septal defects map to chromosome 10p15. | Tremblay N et al. | β | 2011 | β |
| Functional and mechanistic diversity of distal transcription enhancers. | Bulger M et al. | β | 2011 | β |
| Genetics of schizophrenia: new findings and challenges. | Gejman PV et al. | β | 2011 | β |
| Genome-scale techniques highlight the epigenome and redefine fundamental principles of gene regulation. | Pike JW | β | 2011 | β |
| Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes. | Martin D et al. | β | 2011 | β |
| Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia. | Nieratschker V et al. | β | 2011 | β |
| Heart failure: advances through genomics. | Creemers EE et al. | β | 2011 | β |
| Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development. | Bhoj EJ et al. | β | 2011 | β |
| Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach. | Edwards YJ et al. | β | 2011 | β |
| Intragene higher order repeats in neuroblastoma breakpoint family genes distinguish humans from chimpanzees. | Paar V et al. | β | 2011 | β |
| Mapping association between long-range cis-regulatory regions and their target genes using synteny. | Mongin E et al. | β | 2011 | β |
| Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome. | Shimojima K et al. | β | 2011 | β |
| Meningocele following aplasia of the occipital bone. | EggebΓΈ TM et al. | β | 2011 | β |
| Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. | Paternoster L et al. | β | 2011 | β |
| Positional integratomic approach in identification of genomic candidate regions for Parkinson's disease. | Maver A et al. | β | 2011 | β |
| Scattered regulatory regions of the chicken immunoglobulin-Ξ² gene and two adjacent promoters of ubiquitously expressed genes interact with the immunoglobulin-Ξ² promoter in DT40 cells. | Minbuta T et al. | β | 2011 | β |
| Specific expression of LATERAL SUPPRESSOR is controlled by an evolutionarily conserved 3' enhancer. | Raatz B et al. | β | 2011 | β |
| The complex transcription regulatory landscape of our genome: control in three dimensions. | Splinter E et al. | β | 2011 | β |
| The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer. | Colnaghi R et al. | β | 2011 | β |
| The osteoclast-associated receptor (OSCAR) is a novel receptor regulated by oxidized low-density lipoprotein in human endothelial cells. | Goettsch C et al. | β | 2011 | β |
| Transcriptional and epigenetic effects of deleting large regions, alone or in combination, from their natural context in the chicken Ig-Ξ² gene. | Chayahara K et al. | β | 2011 | β |
| Transcription factors in parathyroid development: lessons from hypoparathyroid disorders. | Grigorieva IV et al. | β | 2011 | β |
| A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. | Maass PG et al. | β | 2010 | β |
| A global view of genomic information--moving beyond the gene and the master regulator. | Mattick JS et al. | β | 2010 | β |
| Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction. | Jenkins D et al. | β | 2010 | β |
| Androgen regulates ADAMTS15 gene expression in prostate cancer cells. | Molokwu CN et al. | β | 2010 | β |
| Annotating non-coding regions of the genome. | Alexander RP et al. | β | 2010 | β |
| A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis. | Birve A et al. | β | 2010 | β |
| A Runx1 intronic enhancer marks hemogenic endothelial cells and hematopoietic stem cells. | Ng CE et al. | β | 2010 | β |
| Association of higher DEFB4 genomic copy number with Crohn's disease. | Bentley RW et al. | β | 2010 | β |
| Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319. | Couto JM et al. | β | 2010 | β |
| A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus. | Friedli M et al. | β | 2010 | β |
| A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes. | Gimelli S et al. | β | 2010 | β |
| Cell-type-specific long-range looping interactions identify distant regulatory elements of the CFTR gene. | Gheldof N et al. | β | 2010 | β |
| Challenges in clinical interpretation of microduplications detected by array CGH analysis. | Stankiewicz P et al. | β | 2010 | β |
| Characterization of epithelial cell adhesion molecule as a surface marker on undifferentiated human embryonic stem cells. | Ng VY et al. | β | 2010 | β |
| ChIP-Seq identification of weakly conserved heart enhancers. | Blow MJ et al. | β | 2010 | β |
| Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. | O'Regan GM et al. | β | 2010 | β |
| cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. | Coin LJ et al. | β | 2010 | β |
| Comparative structural and functional analysis of the GLT-1/EAAT-2 promoter from man and rat. | Allritz C et al. | β | 2010 | β |
| Computing chromosome conformation. | Fraser J et al. | β | 2010 | β |
| Conserved expression of mouse Six1 in the pre-placodal region (PPR) and identification of an enhancer for the rostral PPR. | Sato S et al. | β | 2010 | β |
| Controlled somatic and germline copy number variation in the mouse model. | HΓ©rault Y et al. | β | 2010 | β |
| Copy number variations and cancer susceptibility. | Shlien A et al. | β | 2010 | β |
| Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). | Brown KK et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Disruption of long-distance highly conserved noncoding elements in neurocristopathies. | Amiel J et al. | β | 2010 | β |
| Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. | Dimitrov BI et al. | β | 2010 | β |
| Efficient discovery of ASCL1 regulatory sequences through transgene pooling. | McGaughey DM et al. | β | 2010 | β |
| Enhancer elements upstream of the SHOX gene are active in the developing limb. | Durand C et al. | β | 2010 | β |
| Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis dataset. | Khankhanian P et al. | β | 2010 | β |
| Genome-wide approaches to schizophrenia. | Duan J et al. | β | 2010 | β |
| Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. | Bezzina CR et al. | β | 2010 | β |
| Genome-wide maps of transcription regulatory elements. | Sakabe NJ et al. | β | 2010 | β |
| Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. | Kouwenhoven EN et al. | β | 2010 | β |
| Genomic neighbourhood and the regulation of gene expression. | De S et al. | β | 2010 | β |
| Genomics of long-range regulatory elements. | Noonan JP et al. | β | 2010 | β |
| High-throughput sequencing of a 4.1βMb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. | Thomas S et al. | β | 2010 | β |
| Human variation in alcohol response is influenced by variation in neuronal signaling genes. | Joslyn G et al. | β | 2010 | β |
| Insights from GWAS into the quantitative genetics of transcription in humans. | Kim J et al. | β | 2010 | β |
| Integrating one-dimensional and three-dimensional maps of genomes. | Naumova N et al. | β | 2010 | β |
| Investigation of a genome wide association signal for obesity: synthetic association and haplotype analyses at the melanocortin 4 receptor gene locus. | Scherag A et al. | β | 2010 | β |
| Loss-of-function variants in the genomes of healthy humans. | MacArthur DG et al. | β | 2010 | β |
| Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. | Zhang F et al. | β | 2010 | β |
| Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure. | Lu Y et al. | β | 2010 | β |
| Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis. | Gallagher PG et al. | β | 2010 | β |
| Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. | Saugier-Veber P et al. | β | 2010 | β |
| Organization of transcription. | Chakalova L et al. | β | 2010 | β |
| Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. | Ricard G et al. | β | 2010 | β |
| PU.1 is regulated by NF-kappaB through a novel binding site in a 17 kb upstream enhancer element. | Bonadies N et al. | β | 2010 | β |
| S100A6 overexpression is associated with poor prognosis and is epigenetically up-regulated in gastric cancer. | Wang XH et al. | β | 2010 | β |
| Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. | de Bruijn DR et al. | β | 2010 | β |
| Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression. | Meier ID et al. | β | 2010 | β |
| Structural variation in the human genome and its role in disease. | Stankiewicz P et al. | β | 2010 | β |
| The effect of translocation-induced nuclear reorganization on gene expression. | Harewood L et al. | β | 2010 | β |
| The impact of histone post-translational modifications on developmental gene regulation. | Cruickshank MN et al. | β | 2010 | β |
| The role of genetics in the etiology of schizophrenia. | Gejman PV et al. | β | 2010 | β |
| The two most common histological subtypes of malignant germ cell tumour are distinguished by global microRNA profiles, associated with differential transcription factor expression. | Murray MJ et al. | β | 2010 | β |
| Understanding distal transcriptional regulation from sequence, expression and interactome perspectives. | Rao A et al. | β | 2010 | β |
| A de novo complex chromosome rearrangement involving three chromosomes (2, 13, and 18) in an oligospermic male. | Ergul E et al. | β | 2009 | β |
| Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition. | Lower KM et al. | β | 2009 | β |
| A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. | Mangino M et al. | β | 2009 | β |
| A novel distal enhancer mediates cytokine induction of mouse RANKl gene expression. | Bishop KA et al. | β | 2009 | β |
| Array-CGH detection of three cryptic submicroscopic imbalances in a complex chromosome rearrangement. | Zhang Y et al. | β | 2009 | β |
| A transposon-based chromosomal engineering method to survey a large cis-regulatory landscape in mice. | Kokubu C et al. | β | 2009 | β |
| Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy. | Cottrell CE et al. | β | 2009 | β |
| Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. | Zhang L et al. | β | 2009 | β |
| Characterization of the chromosomal inversion associated with the Koa mutation in the mouse revealed the cause of skeletal abnormalities. | Katayama K et al. | β | 2009 | β |
| Characterization of the regulatory region of the dopa decarboxylase gene in Medaka: an in vivo green fluorescent protein reporter assay combined with a simple TA-cloning method. | Fujimori KE | β | 2009 | β |
| Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2. | David D et al. | β | 2009 | β |
| Chromatin conformation signatures of cellular differentiation. | Fraser J et al. | β | 2009 | β |
| Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription. | Amano T et al. | β | 2009 | β |
| Cis-regulatory mutations in human disease. | Epstein DJ | β | 2009 | β |
| Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease. | Kleinjan DJ et al. | β | 2009 | β |
| Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. | Okou DT et al. | β | 2009 | β |
| Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. | Wilson SG et al. | β | 2009 | β |
| Complex human chromosomal and genomic rearrangements. | Zhang F et al. | β | 2009 | β |
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| Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. | Kovacs ME et al. | β | 2009 | β |
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| Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. | D'haene B et al. | β | 2009 | β |
| Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease? | Bergman O et al. | β | 2009 | β |
| Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. | Dathe K et al. | β | 2009 | β |
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| Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2? | Gilmour DF et al. | β | 2009 | β |
| FOXL2 mutations and genomic rearrangements in BPES. | Beysen D et al. | β | 2009 | β |
| Gene clusters, molecular evolution and disease: a speculation. | Elizondo LI et al. | β | 2009 | β |
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| Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. | Alders M et al. | β | 2009 | β |
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| Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. | Benko S et al. | β | 2009 | β |
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| Inherited variation in gene expression. | Skelly DA et al. | β | 2009 | β |
| INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. | Liu Y et al. | β | 2009 | β |
| Intronic regulatory elements determine the divergent expression patterns of AGAMOUS-LIKE6 subfamily members in Arabidopsis. | Schauer SE et al. | β | 2009 | β |
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| Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. | Carboni I et al. | β | 2009 | β |
| MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes. | Bhoj EJ et al. | β | 2009 | β |
| Phenotypic suppression of the Drosophila mitochondrial disease-like mutant tko(25t) by duplication of the mutant gene in its natural chromosomal context. | Kemppainen E et al. | β | 2009 | β |
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| Retroviral integration sites (RIS) mark cis-regulatory elements. | Ng CE et al. | β | 2009 | β |
| Segmental copy number variation shapes tissue transcriptomes. | Henrichsen CN et al. | β | 2009 | β |
| Separation of the PROX1 gene from upstream conserved elements in a complex inversion/translocation patient with hypoplastic left heart. | Gill HK et al. | β | 2009 | β |
| Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes. | Navratilova P et al. | β | 2009 | β |
| The correlations of the function and positional distribution of the cis-elements CArG around the TSS in the genes of Mus musculus. | Shen X et al. | β | 2009 | β |
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| The PAX258 gene subfamily: a comparative perspective. | Goode DK et al. | β | 2009 | β |
| The transcription factor PITX3 is associated with sporadic Parkinson's disease. | Fuchs J et al. | β | 2009 | β |
| A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties. | Lybaek H et al. | β | 2008 | β |
| Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. | Mansouri MR et al. | β | 2008 | β |
| A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. | Klopocki E et al. | β | 2008 | β |
| An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. | Newman JC et al. | β | 2008 | β |
| Anchoring the genome. | Ottaviani D et al. | β | 2008 | β |
| Ancora: a web resource for exploring highly conserved noncoding elements and their association with developmental regulatory genes. | EngstrΓΆm PG et al. | β | 2008 | β |
| A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. | Chanda B et al. | β | 2008 | β |
| A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. | Fantauzzo KA et al. | β | 2008 | β |
| Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. | Colasante G et al. | β | 2008 | β |
| Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. | MΓΈller RS et al. | β | 2008 | β |
| Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. | Baptista J et al. | β | 2008 | β |
| Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. | Friedli M et al. | β | 2008 | β |
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| Cluster specific regulation pattern of upstream regulatory elements in human alpha- and beta-globin gene clusters. | Tang Y et al. | β | 2008 | β |
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| Common genetic variation near MC4R is associated with waist circumference and insulin resistance. | Chambers JC et al. | β | 2008 | β |
| Coordinated diurnal regulation of genes from the Dlk1-Dio3 imprinted domain: implications for regulation of clusters of non-paralogous genes. | Labialle S et al. | β | 2008 | β |
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| Dynamic interactions between the promoter and terminator regions of the mammalian BRCA1 gene. | Tan-Wong SM et al. | β | 2008 | β |
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| E2-mediated cathepsin D (CTSD) activation involves looping of distal enhancer elements. | Bretschneider N et al. | β | 2008 | β |
| Enhancer analysis by chicken embryo electroporation with aid of genome comparison. | Uchikawa M | β | 2008 | β |
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| Epigenetics and the nervous system. | Mehler MF | β | 2008 | β |
| Eukaryotic gene regulation in three dimensions and its impact on genome evolution. | Babu MM et al. | β | 2008 | β |
| Evolution of man in the light of molecular genetics: a review. Part II. Regulation of gene function, evolution of speech and of brains. | Portin P | β | 2008 | β |
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| Gene regulation in primates evolves under tissue-specific selection pressures. | Blekhman R et al. | β | 2008 | β |
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| Growth hormone regulation of insulin-like growth factor-I gene expression may be mediated by multiple distal signal transducer and activator of transcription 5 binding sites. | Eleswarapu S et al. | β | 2008 | β |
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| Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment. | Nystad M et al. | β | 2008 | β |
| Human-mouse quantitative trait locus concordance and the dissection of a human neuroticism locus. | Fullerton JM et al. | β | 2008 | β |
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| Interacting gene clusters and the evolution of the vertebrate immune system. | Makino T et al. | β | 2008 | β |
| Investigation of the origins of human autosomal inversions. | Thomas NS et al. | β | 2008 | β |
| Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation. | Di Pietro C et al. | β | 2008 | β |
| Long-range chromosomal interactions and gene regulation. | Miele A et al. | β | 2008 | β |
| Long-range enhancer associated with chromatin looping allows AP-1 regulation of the peptidylarginine deiminase 3 gene in differentiated keratinocyte. | Chavanas S et al. | β | 2008 | β |
| Long-range enhancers are required to maintain expression of the autoantigen islet-specific glucose-6-phosphatase catalytic subunit-related protein in adult mouse islets in vivo. | Wang Y et al. | β | 2008 | β |
| Long-range, high-throughput haplotype determination via haplotype-fusion PCR and ligation haplotyping. | Turner DJ et al. | β | 2008 | β |
| Long-range regulation of alpha-globin gene expression. | Higgs DR et al. | β | 2008 | β |
| Long-range regulation of alpha globin gene expression during erythropoiesis. | Higgs DR et al. | β | 2008 | β |
| Male-pattern baldness susceptibility locus at 20p11. | Richards JB et al. | β | 2008 | β |
| Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. | McGaughey DM et al. | β | 2008 | β |
| Mowat-Wilson syndrome: an underdiagnosed syndrome? | Engenheiro E et al. | β | 2008 | β |
| NOS1AP in schizophrenia. | Brzustowicz LM | β | 2008 | β |
| Organization of conserved elements near key developmental regulators in vertebrate genomes. | Woolfe A et al. | β | 2008 | β |
| Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. | Babbs C et al. | β | 2008 | β |
| Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. | Wang L et al. | β | 2008 | β |
| Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism. | Castermans D et al. | β | 2008 | β |
| Revealing the architecture of gene regulation: the promise of eQTL studies. | Gilad Y et al. | β | 2008 | β |
| Searching for functional genetic variants in non-coding DNA. | Cobb J et al. | β | 2008 | β |
| Sex-linked deafness. | Petersen MB et al. | β | 2008 | β |
| Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. | Kleinjan DA et al. | β | 2008 | β |
| The functional impact of structural variation in humans. | Hurles ME et al. | β | 2008 | β |
| The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities. | Couto JM et al. | β | 2008 | β |
| The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears. | Mentzer SE et al. | β | 2008 | β |
| Three-dimensional organization of gene expression in erythroid cells. | de Laat W et al. | β | 2008 | β |
| 3p-- syndrome defines a hearing loss locus in 3p25.3. | McCullough BJ et al. | β | 2007 | β |
| A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype. | Moncla A et al. | β | 2007 | β |
| A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. | Graziano C et al. | β | 2007 | β |
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| A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. | Babbs C et al. | β | 2007 | β |
| A new paradigm for developmental biology. | Mattick JS | β | 2007 | β |
| Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease. | Lie BA et al. | β | 2007 | β |
| Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia. | Christoforou A et al. | β | 2007 | β |
| Beta-catenin binds to the downstream region and regulates the expression C-reactive protein gene. | Choi YS et al. | β | 2007 | β |
| Bmp2 transcription in osteoblast progenitors is regulated by a distant 3' enhancer located 156.3 kilobases from the promoter. | Chandler RL et al. | β | 2007 | β |
| Candidate loci for Zimmermann-Laband syndrome at 3p14.3. | Kim HG et al. | β | 2007 | β |
| Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. | Jamieson RV et al. | β | 2007 | β |
| Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene. | Ward RD et al. | β | 2007 | β |
| Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. | Borg K et al. | β | 2007 | β |
| De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations. | Yue Y et al. | β | 2007 | β |
| Effect of tryptophan hydroxylase-2 gene variants on suicide risk in major depression. | Lopez de Lara C et al. | β | 2007 | β |
| Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. | Rizzolio F et al. | β | 2007 | β |
| Epigenetic control of the S100A6 (calcyclin) gene expression. | LeΕniak W et al. | β | 2007 | β |
| Ethanol-responsive genes: identification of transcription factors and their role in metabolomics. | Uddin RK et al. | β | 2007 | β |
| Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. | Abo-Dalo B et al. | β | 2007 | β |
| Extreme context specificity in differential allelic expression. | Wilkins JM et al. | β | 2007 | β |
| Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease. | Hirano E et al. | β | 2007 | β |
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| How stem cells age and why this makes us grow old. | Sharpless NE et al. | β | 2007 | β |
| Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. | Castermans D et al. | β | 2007 | β |
| Identification of an histone H3 acetylated/K4-methylated-bound intragenic enhancer regulatory for urokinase receptor expression. | Wang H et al. | β | 2007 | β |
| Identifying pattern-defined regulatory islands in mammalian genomes. | Cheung TH et al. | β | 2007 | β |
| Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression. | Vernimmen D et al. | β | 2007 | β |
| Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). | Smyk M et al. | β | 2007 | β |
| Manipulating the mouse genome to engineer precise functional syntenic replacements with human sequence. | Wallace HA et al. | β | 2007 | β |
| Mapping networks of physical interactions between genomic elements using 5C technology. | Dostie J et al. | β | 2007 | β |
| Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. | Boland E et al. | β | 2007 | β |
| Motif discovery in tissue-specific regulatory sequences using directed information. | Rao A et al. | β | 2007 | β |
| NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. | Lu W et al. | β | 2007 | β |
| Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. | Bocciardi R et al. | β | 2007 | β |
| Partial tandem duplication of GRIA3 in a male with mental retardation. | Chiyonobu T et al. | β | 2007 | β |
| PAX6 mutations may be associated with high myopia. | Hewitt AW et al. | β | 2007 | β |
| Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. | Yan J et al. | β | 2007 | β |
| Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. | Jakobsen LP et al. | β | 2007 | β |
| Population genomics of human gene expression. | Stranger BE et al. | β | 2007 | β |
| Relative impact of nucleotide and copy number variation on gene expression phenotypes. | Stranger BE et al. | β | 2007 | β |
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| RNAi-dependent and -independent antiviral phenotypes of chromosomally integrated shRNA clones: role of VASP in respiratory syncytial virus growth. | Musiyenko A et al. | β | 2007 | β |
| Side effects of genome structural changes. | Reymond A et al. | β | 2007 | β |
| SNP fine mapping of chromosome 8q24 in bipolar disorder. | Zandi PP et al. | β | 2007 | β |
| Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. | Jakobsen LP et al. | β | 2007 | β |
| The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. | Bertorelli R et al. | β | 2007 | β |
| The impact of BRCA1 on spina bifida meningomyelocele lesions. | King TM et al. | β | 2007 | β |
| The relationship between non-protein-coding DNA and eukaryotic complexity. | Taft RJ et al. | β | 2007 | β |
| Thousands of human mobile element fragments undergo strong purifying selection near developmental genes. | Lowe CB et al. | β | 2007 | β |
| Toward a comprehensive set of asthma susceptibility genes. | BossΓ© Y et al. | β | 2007 | β |
| Using reporter gene assays to identify cis regulatory differences between humans and chimpanzees. | Chabot A et al. | β | 2007 | β |
| A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. | Jeong Y et al. | β | 2006 | β |
| A highly complex rea(2;3;11) and aniridia by position effect. | Rivera H et al. | β | 2006 | β |
| An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer. | Antonini D et al. | β | 2006 | β |
| Ancient duplicated conserved noncoding elements in vertebrates: a genomic and functional analysis. | McEwen GK et al. | β | 2006 | β |
| A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation. | Ruiter M et al. | β | 2006 | β |
| Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression. | Kolomietz E et al. | β | 2006 | β |
| [A STRING lifts the veil on the mechanisms controlling Hox genes expression]. | Spitz F et al. | β | 2006 | β |
| Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region. | Tagariello A et al. | β | 2006 | β |
| Breakpoints around the HOXD cluster result in various limb malformations. | Dlugaszewska B et al. | β | 2006 | β |
| Characterisation of conserved non-coding sequences in vertebrate genomes using bioinformatics, statistics and functional studies. | Edwards YJ et al. | β | 2006 | β |
| Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. | Rizzolio F et al. | β | 2006 | β |
| Chromosome organization and chromatin modification: influence on genome function and evolution. | Holmquist GP et al. | β | 2006 | β |
| Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder. | Pickard BS et al. | β | 2006 | β |
| Defining a genomic radius for long-range enhancer action: duplicated conserved non-coding elements hold the key. | Vavouri T et al. | β | 2006 | β |
| Defining the mammalian CArGome. | Sun Q et al. | β | 2006 | β |
| Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. | Hever AM et al. | β | 2006 | β |
| Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect. | Barber JC et al. | β | 2006 | β |
| Expression of the human PAC1 receptor leads to dose-dependent hydrocephalus-related abnormalities in mice. | Lang B et al. | β | 2006 | β |
| Facioscapulohumeral muscular dystrophy. | Tawil R et al. | β | 2006 | β |
| Foxl2 function in ovarian development. | Uhlenhaut NH et al. | β | 2006 | β |
| Functional variation and evolution of non-coding DNA. | Bird CP et al. | β | 2006 | β |
| Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. | Malik S et al. | β | 2006 | β |
| Genomic anatomy of the Tyrp1 (brown) deletion complex. | Smyth IM et al. | β | 2006 | β |
| Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. | Fischer S et al. | β | 2006 | β |
| Identification of cis-regulatory elements for MECP2 expression. | Liu J et al. | β | 2006 | β |
| Identifying gene regulatory elements by genomic microarray mapping of DNaseI hypersensitive sites. | Follows GA et al. | β | 2006 | β |
| In Vivo beta-adrenergic activation of atrial natriuretic factor (ANF) reporter expression. | Edwards JG | β | 2006 | β |
| In vivo enhancer analysis of human conserved non-coding sequences. | Pennacchio LA et al. | β | 2006 | β |
| IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein. | KwaΕnicka-Crawford DA et al. | β | 2006 | β |
| Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice. | Yue Y et al. | β | 2006 | β |
| Long-range downstream enhancers are essential for Pax6 expression. | Kleinjan DA et al. | β | 2006 | β |
| Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene. | Fusco F et al. | β | 2006 | β |
| Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. | Pezzolesi MG et al. | β | 2006 | β |
| Natural selection on gene expression. | Gilad Y et al. | β | 2006 | β |
| Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5' SNPs associated with the disease. | Law AJ et al. | β | 2006 | β |
| New technologies, new findings, and new concepts in the study of vertebrate cis-regulatory sequences. | GΓ³mez-Skarmeta JL et al. | β | 2006 | β |
| Prenatal cytogenetic assessment and inv(2)(p11.2q13). | Hysert M et al. | β | 2006 | β |
| Primate segmental duplications: crucibles of evolution, diversity and disease. | Bailey JA et al. | β | 2006 | β |
| Reflections on the relationship between psychiatric genetics and psychiatric nosology. | Kendler KS | β | 2006 | β |
| Role of SOX2 mutations in human hippocampal malformations and epilepsy. | Sisodiya SM et al. | β | 2006 | β |
| Shared long-range regulatory elements coordinate expression of a gene cluster encoding nicotinic receptor heteromeric subtypes. | Xu X et al. | β | 2006 | β |
| Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. | Lee JA et al. | β | 2006 | β |
| Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. | Lyle R et al. | β | 2006 | β |
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. | Merla G et al. | β | 2006 | β |
| Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. | Bache I et al. | β | 2006 | β |
| The human vitamin D-binding protein gene contains locus control determinants sufficient for autonomous activation in hepatic chromatin. | Hiroki T et al. | β | 2006 | β |
| The three 'C' s of chromosome conformation capture: controls, controls, controls. | Dekker J | β | 2006 | β |
| Unraveling transcriptional control and cis-regulatory codes using the software suite GeneACT. | Cheung TH et al. | β | 2006 | β |
| X chromosome gene expression in human tissues: male and female comparisons. | Talebizadeh Z et al. | β | 2006 | β |
| X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. | Anselm IA et al. | β | 2006 | β |
| X-linked premature ovarian failure: a complex disease. | Toniolo D | β | 2006 | β |
| Analysis of NF1 transcriptional regulatory elements. | Lee TK et al. | β | 2005 | β |
| An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. | Bowl MR et al. | β | 2005 | β |
| An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. | Niedermaier M et al. | β | 2005 | β |
| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. | Benito-Sanz S et al. | β | 2005 | β |
| Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays. | Rada-Iglesias A et al. | β | 2005 | β |
| Computational screening of conserved genomic DNA in search of functional noncoding elements. | Bejerano G et al. | β | 2005 | β |
| Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. | Beysen D et al. | β | 2005 | β |
| DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. | Bartsch O et al. | β | 2005 | β |
| Genome-wide association studies: theoretical and practical concerns. | Wang WY et al. | β | 2005 | β |
| Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. | Cruts M et al. | β | 2005 | β |
| Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. | Lupski JR et al. | β | 2005 | β |
| Globalisation reaches gene regulation: the case for vertebrate limb development. | Zuniga A | β | 2005 | β |
| Holoprosencephaly and cleidocranial dysplasia in a patient due to two position-effect mutations: case report and review of the literature. | Fernandez BA et al. | β | 2005 | β |
| Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder. | Xu B et al. | β | 2005 | β |
| Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. | Spitz F et al. | β | 2005 | β |
| Literature watch. Complete and specific inhibition of adult lymphatic regeneration by a novel VEGFR-3 neutralizing antibody. | Bridenbaugh E | β | 2005 | β |
| Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. | Ahituv N et al. | β | 2005 | β |
| Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). | Bouslam N et al. | β | 2005 | β |
| Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. | Borg K et al. | β | 2005 | β |
| Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. | Koolen DA et al. | β | 2005 | β |
| Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. | Velagaleti GV et al. | β | 2005 | β |
| Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities. | Lettice LA et al. | β | 2005 | β |
| Remote control of gene transcription. | West AG et al. | β | 2005 | β |
| Replication and transcription: shaping the landscape of the genome. | Chakalova L et al. | β | 2005 | β |
| Sequence variants in SLITRK1 are associated with Tourette's syndrome. | Abelson JF et al. | β | 2005 | β |
| Strong bias in the location of functional promoter polymorphisms. | Buckland PR et al. | β | 2005 | β |
| Subdomains for transport via plasmodesmata corresponding to the apical-basal axis are established during Arabidopsis embryogenesis. | Kim I et al. | β | 2005 | β |
| Tryptophan hydroxylase 2 (TPH2) gene variants associated with ADHD. | Sheehan K et al. | β | 2005 | β |
| Use of a restriction endonuclease cytotoxicity assay to identify inducible GAL1 promoter variants with reduced basal activity. | Lewis LK et al. | β | 2005 | β |