Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences

D4Z4as a prototype of CTCF and lamins-dependent insulator in human cells

(2014) Alexandre Ottaviani et al.   Nucleus

Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment

(2013) Natalie R. Powers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

(2013) Shipra Bhatia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

(2013) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

(2013) Ana Carolina S Fonseca et al.   BMC Medical Genetics

A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

(2013) Christian Praetorius et al.   CELL

Architectural Protein Subclasses Shape 3D Organization of Genomes during Lineage Commitment

(2013) Jennifer E. Phillips-Cremins et al.   CELL

An Integrated Holo-Enhancer Unit Defines Tissue and Gene Specificity of the Fgf8 Regulatory Landscape

(2013) Mirna Marinić et al.   DEVELOPMENTAL CELL

On the Immortality of Television Sets: "Function" in the Human Genome According to the Evolution-Free Gospel of ENCODE

(2013) D. Graur et al.   Genome Biology and Evolution

Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay

(2013) P. Kheradpour et al.   GENOME RESEARCH

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

(2013) O. Corradin et al.   GENOME RESEARCH

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

(2013) J. K. Rainger et al.   HUMAN MOLECULAR GENETICS

Using zebrafish transgenesis to test human genomic sequences for specific enhancer activity

(2013) Minaka Ishibashi et al.   METHODS

Chromatin Insulators: Linking Genome Organization to Cellular Function

(2013) Jennifer E. Phillips-Cremins et al.   MOLECULAR CELL

Topology of mammalian developmental enhancers and their regulatory landscapes

(2013) Wouter de Laat et al.   NATURE

Chromatin connectivity maps reveal dynamic promoter–enhancer long-range associations

(2013) Yubo Zhang et al.   NATURE

Cas9 as a versatile tool for engineering biology

(2013) Prashant Mali et al.   NATURE METHODS

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

Robust, synergistic regulation of human gene expression using TALE activators

(2013) Morgan L Maeder et al.   NATURE METHODS

CRISPR RNA–guided activation of endogenous human genes

(2013) Morgan L Maeder et al.   NATURE METHODS

Synergistic and tunable human gene activation by combinations of synthetic transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data

(2013) Job Dekker et al.   NATURE REVIEWS GENETICS

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

High-resolution analysis of cis-acting regulatory networks at the  -globin locus

(2013) J. R. Hughes et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Chromatin organization and global regulation of Hox gene clusters

(2013) T. Montavon et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Many human accelerated regions are developmental enhancers

(2013) J. A. Capra et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3

(2013) Atsushi Miyake et al.   PLoS One

Is junk DNA bunk? A critique of ENCODE

(2013) W. F. Doolittle   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Switch Between Topological Domains Underlies HoxD Genes Collinearity in Mouse Limbs

(2013) G. Andrey et al.   SCIENCE

Genome-Wide Quantitative Enhancer Activity Maps Identified by STARR-seq

(2013) C. D. Arnold et al.   SCIENCE

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

The Molecular Basis of  -Thalassemia

(2013) D. R. Higgs   Cold Spring Harbor Perspectives in Medicine

The Impact of Gene Expression Variation on the Robustness and Evolvability of a Developmental Gene Regulatory Network

(2013) David A. Garfield et al.   PLOS BIOLOGY

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

(2013) Nir Oksenberg et al.   PLoS Genetics

Sequencing of Pax6 Loci from the Elephant Shark Reveals a Family of Pax6 Genes in Vertebrate Genomes, Forged by Ancient Duplications and Divergences

(2013) Vydianathan Ravi et al.   PLoS Genetics

RNA-programmed genome editing in human cells

(2013) Martin Jinek et al.   eLife

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

(2012) Malte Spielmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

(2012) Maki Fukami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

(2012) Daphne S. Cabianca et al.   CELL

Controlling Long-Range Genomic Interactions at a Native Locus by Targeted Tethering of a Looping Factor

(2012) Wulan Deng et al.   CELL

Transcriptional Amplification in Tumor Cells with Elevated c-Myc

(2012) Charles Y. Lin et al.   CELL

Extensive Promoter-Centered Chromatin Interactions Provide a Topological Basis for Transcription Regulation

(2012) Guoliang Li et al.   CELL

Facioscapulohumeral muscular dystrophy

(2012) Silvère M. van der Maarel et al.   CURRENT OPINION IN NEUROLOGY

Opposing Functions of the ETS Factor Family Define Shh Spatial Expression in Limb Buds and Underlie Polydactyly

(2012) Laura A. Lettice et al.   DEVELOPMENTAL CELL

A decade of 3C technologies: insights into nuclear organization

(2012) E. de Wit et al.   GENES & DEVELOPMENT

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter

(2012) M. Visser et al.   GENOME RESEARCH

Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus

(2012) X. Zhang et al.   GENOME RESEARCH

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

(2012) Sara Benito-Sanz et al.   JOURNAL OF MEDICAL GENETICS

Intragenic Enhancers Act as Alternative Promoters

(2012) Monika S. Kowalczyk et al.   MOLECULAR CELL

The long-range interaction landscape of gene promoters

(2012) Amartya Sanyal et al.   NATURE

A map of the cis-regulatory sequences in the mouse genome

(2012) Yin Shen et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

Spatial partitioning of the regulatory landscape of the X-inactivation centre

(2012) Elphège P. Nora et al.   NATURE

Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

(2012) Alexandre Melnikov et al.   NATURE BIOTECHNOLOGY

Massively parallel functional dissection of mammalian enhancers in vivo

(2012) Rupali P Patwardhan et al.   NATURE BIOTECHNOLOGY

Transcription factors: from enhancer binding to developmental control

(2012) François Spitz et al.   NATURE REVIEWS GENETICS

Integrative annotation of chromatin elements from ENCODE data

(2012) Michael M. Hoffman et al.   NUCLEIC ACIDS RESEARCH

Automated Reporter Quantification In Vivo: High-Throughput Screening Method for Reporter-Based Assays in Zebrafish

(2012) Steven L. Walker et al.   PLoS One

Complex effects of nucleotide variants in a mammalian cis-regulatory element

(2012) J. C. Kwasnieski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus

(2012) T. Montavon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice Lacking a Myc Enhancer That Includes Human SNP rs6983267 Are Resistant to Intestinal Tumors

(2012) I. K. Sur et al.   SCIENCE

Epigenomic Enhancer Profiling Defines a Signature of Colon Cancer

(2012) B. Akhtar-Zaidi et al.   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Landscapes and archipelagos: spatial organization of gene regulation in vertebrates

(2012) Thomas Montavon et al.   TRENDS IN CELL BIOLOGY

Enhancers as information integration hubs in development: lessons from genomics

(2012) Christa Buecker et al.   TRENDS IN GENETICS

Pharmacogene regulatory elements: from discovery to applications

(2012) Robin P Smith et al.   Genome Medicine

Extensive Evolutionary Changes in Regulatory Element Activity during Human Origins Are Associated with Altered Gene Expression and Positive Selection

(2012) Yoichiro Shibata et al.   PLoS Genetics

Genome-Wide Joint Meta-Analysis of SNP and SNP-by-Smoking Interaction Identifies Novel Loci for Pulmonary Function

(2012) Dana B. Hancock et al.   PLoS Genetics

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

A Regulatory Archipelago Controls Hox Genes Transcription in Digits

(2011) Thomas Montavon et al.   CELL

Functional Characterization of Liver Enhancers That Regulate Drug-Associated Transporters

(2011) M J Kim et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Complex interactions between cis-regulatory modules in native conformation are critical for Drosophila snail expression

(2011) L. Dunipace et al.   DEVELOPMENT

Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed

(2011) Sarah A. Maas et al.   DEVELOPMENTAL DYNAMICS

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

(2011) Jamal Ghoumid et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polycomb eviction as a new distant enhancer function

(2011) D. Vernimmen et al.   GENES & DEVELOPMENT

What fraction of the human genome is functional?

(2011) C. P. Ponting et al.   GENOME RESEARCH

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

(2011) Mark Richards et al.   HUMAN GENETICS

Enhancer-adoption as a mechanism of human developmental disease

(2011) Laura A. Lettice et al.   HUMAN MUTATION

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

(2011) S. Benko et al.   JOURNAL OF MEDICAL GENETICS

Human-specific loss of regulatory DNA and the evolution of human-specific traits

(2011) Cory Y. McLean et al.   NATURE

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

(2011) Olivier Harismendy et al.   NATURE

Large-scale analysis of the regulatory architecture of the mouse genome with a transposon-associated sensor

(2011) Sandra Ruf et al.   NATURE GENETICS

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

(2011) Tuomas O Kilpeläinen et al.   NATURE GENETICS

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease

(2011) Noor M Ghiasvand et al.   NATURE NEUROSCIENCE

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Genome-wide CTCF distribution in vertebrates defines equivalent sites that aid the identification of disease-associated genes

(2011) David Martin et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

(2011) James J. Cox et al.   NEW ENGLAND JOURNAL OF MEDICINE

Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers

(2011) Li Teng et al.   NUCLEIC ACIDS RESEARCH

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

(2011) S J Lubbe et al.   ONCOGENE

DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region

(2011) David J. McBride et al.   PLoS One

Multiple enhancers ensure precision of gap gene-expression patterns in the Drosophila embryo

(2011) M. W. Perry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Understanding the role of SOX9 in acquired diseases: lessons from development

(2011) James Pritchett et al.   TRENDS IN MOLECULAR MEDICINE

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

(2011) Silvère M. van der Maarel et al.   TRENDS IN MOLECULAR MEDICINE

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

(2010) Eva Klopocki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

(2010) Diana Mitter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo 12;17 translocation upstream ofSOX9resulting in 46,XX testicular disorder of sex development

(2010) Osama Refai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification

(2010) Marion Phylipsen et al.   BLOOD CELLS MOLECULES AND DISEASES

SOX9 Elevation in the Prostate Promotes Proliferation and Cooperates with PTEN Loss to Drive Tumor Formation

(2010) M. K. Thomsen et al.   CANCER RESEARCH

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

(2010) J Albuisson et al.   CLINICAL GENETICS

Shadow Enhancers Foster Robustness of Drosophila Gastrulation

(2010) Michael W. Perry et al.   CURRENT BIOLOGY

An SNP in an ultraconserved regulatory element affects Dlx5/Dlx6 regulation in the forebrain

(2010) L. Poitras et al.   DEVELOPMENT

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

(2010) Muhammad Farooq et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

(2010) Piranit N Kantaputra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity

(2010) S. Rowan et al.   GENES & DEVELOPMENT

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer

(2010) N. F. Wasserman et al.   GENOME RESEARCH

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

(2010) Silvia Naranjo et al.   HUMAN GENETICS

Genotype–phenotype associations and human eye color

(2010) Désirée White et al.   JOURNAL OF HUMAN GENETICS

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1

(2010) T.-J. Cho et al.   JOURNAL OF MEDICAL GENETICS

Upregulation of c-MYC in cis through a Large Chromatin Loop Linked to a Cancer Risk-Associated Single-Nucleotide Polymorphism in Colorectal Cancer Cells

(2010) J. B. Wright et al.   MOLECULAR AND CELLULAR BIOLOGY

Molecular Interplay of the Noncoding RNA ANRIL and Methylated Histone H3 Lysine 27 by Polycomb CBX7 in Transcriptional Silencing of INK4a

(2010) Kyoko L. Yap et al.   MOLECULAR CELL

Phenotypic robustness conferred by apparently redundant transcriptional enhancers

(2010) Nicolás Frankel et al.   NATURE

Emerging properties of animal gene regulatory networks

(2010) Eric H. Davidson   NATURE

A unique chromatin signature uncovers early developmental enhancers in humans

(2010) Alvaro Rada-Iglesias et al.   NATURE

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Genomics tools for unraveling chromosome architecture

(2010) Bas van Steensel et al.   NATURE BIOTECHNOLOGY

Long-range enhancers on 8q24 regulate c-Myc

(2010) J. Sotelo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

8q24 prostate, breast, and colon cancer risk loci show tissue-specific long-range interaction with MYC

(2010) N. Ahmadiyeh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A synonymous mutation inTCOF1causes Treacher Collins syndrome due to mis-splicing of a constitutive exon

(2009) D. Macaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9

(2009) Claire Lecointre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CTCF: Master Weaver of the Genome

(2009) Jennifer E. Phillips et al.   CELL

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

(2009) Elisabeth M. Lodder et al.   CHROMOSOME RESEARCH

A cluster of three long-range enhancers directs regional Shh expression in the epithelial linings

(2009) T. Sagai et al.   DEVELOPMENT

Otic mesenchyme expression of Cre recombinase directed by the inner ear enhancer of theBrn4/Pou3f4gene

(2009) Kyung J. Ahn et al.   GENESIS

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

(2009) Kerry K. Brown et al.   HUMAN GENETICS

A specific mutation in the distant sonic hedgehog (SHH)cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

(2009) Dagmar Wieczorek et al.   HUMAN MUTATION

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

(2009) B. I. Dimitrov et al.   JOURNAL OF MEDICAL GENETICS

Epigenetic Silencing of the p16INK4a Tumor Suppressor Is Associated with Loss of CTCF Binding and a Chromatin Boundary

(2009) Michael Witcher et al.   MOLECULAR CELL

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Combinatorial binding predicts spatio-temporal cis-regulatory activity

(2009) Robert P. Zinzen et al.   NATURE

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS

A transposon-based chromosomal engineering method to survey a large cis-regulatory landscape in mice

(2009) Chikara Kokubu et al.   NATURE GENETICS

H3.3/H2A.Z double variant–containing nucleosomes mark 'nucleosome-free regions' of active promoters and other regulatory regions

(2009) Chunyuan Jin et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

(2009) Mark M Pomerantz et al.   NATURE GENETICS

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

(2009) Sari Tuupanen et al.   NATURE GENETICS

Long non-coding RNAs: insights into functions

(2009) Tim R. Mercer et al.   NATURE REVIEWS GENETICS

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

Genetics of human iris colour and patterns

(2009) Richard A. Sturm et al.   Pigment Cell & Melanoma Research

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

(2009) A. Ragvin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

(2009) K. M. Lower et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic Temporal Control of Mouse Hox Genes in Vivo

(2009) N. Soshnikova et al.   SCIENCE

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

(2009) Gitte J Almind et al.   Molecular Cytogenetics

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy

(2009) Alexandre Ottaviani et al.   PLoS Genetics

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

(2008) J.A. Fantes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

(2008) Richard A. Sturm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

(2008) David O. Robinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of the polycomb complex in silencing  -globin gene expression in nonerythroid cells

(2008) D. Garrick et al.   BLOOD

SOX9 Is Expressed in Human Fetal Prostate Epithelium and Enhances Prostate Cancer Invasion

(2008) H. Wang et al.   CANCER RESEARCH

Chromosomal Dynamics at the Shh Locus: Limb Bud-Specific Differential Regulation of Competence and Active Transcription

(2008) Takanori Amano et al.   DEVELOPMENTAL CELL

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

(2008) Hans Eiberg et al.   HUMAN GENETICS

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

(2008) Dominic Furniss et al.   HUMAN MOLECULAR GENETICS

Cohesin mediates transcriptional insulation by CCCTC-binding factor

(2008) Kerstin S. Wendt et al.   NATURE

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

(2008) Yongsu Jeong et al.   NATURE GENETICS

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

(2008) Fedik Rahimov et al.   NATURE GENETICS

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

(2008) Marjolijn J L Ligtenberg et al.   NATURE GENETICS

UniPROBE: an online database of protein binding microarray data on protein-DNA interactions

(2008) D. E. Newburger et al.   NUCLEIC ACIDS RESEARCH

Subfunctionalization of Duplicated Zebrafish pax6 Genes by cis-Regulatory Divergence

(2008) Dirk A. Kleinjan et al.   PLoS Genetics

Properties of developmental gene regulatory networks

(2008) E. H. Davidson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Shadow Enhancers as a Source of Evolutionary Novelty

(2008) J.-W. Hong et al.   SCIENCE

Human-Specific Gain of Function in a Developmental Enhancer

(2008) S. Prabhakar et al.   SCIENCE

Modifier Effects between Regulatory and Protein-Coding Variation

(2008) Antigone S. Dimas et al.   PLoS Genetics