Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells
|
journal
|
December 2013 |
Mapping and analysis of chromatin state dynamics in nine human cell types
|
journal
|
March 2011 |
Differential DNase I hypersensitivity reveals factor-dependent chromatin dynamics
|
journal
|
April 2012 |
Diagnosis of multiple cancer types by shrunken centroids of gene expression
|
journal
|
May 2002 |
Topology of mammalian developmental enhancers and their regulatory landscapes
|
journal
|
October 2013 |
DNase-seq: A High-Resolution Technique for Mapping Active Gene Regulatory Elements across the Genome from Mammalian Cells
|
journal
|
February 2010 |
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
|
journal
|
January 2008 |
The NIH Roadmap Epigenomics Mapping Consortium
|
journal
|
October 2010 |
Measuring reproducibility of high-throughput experiments
|
text
|
January 2011 |
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
|
journal
|
May 2012 |
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes
|
journal
|
December 2010 |
Multiple-laboratory comparison of microarray platforms
|
journal
|
April 2005 |
Phenotype Ontologies and Cross-Species Analysis for Translational Research
|
journal
|
April 2014 |
Characterising and Predicting Haploinsufficiency in the Human Genome
|
journal
|
October 2010 |
ChIP-seq accurately predicts tissue-specific activity of enhancers
|
journal
|
February 2009 |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
|
text
|
January 2011 |
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
|
journal
|
June 2012 |
Williams-Beuren Syndrome
|
journal
|
March 2006 |
The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies
|
journal
|
February 1995 |
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
|
journal
|
April 1993 |
Role of fibroblast growth factor receptor signaling in kidney development
|
journal
|
August 2011 |
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice
|
journal
|
July 2011 |
Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome
|
journal
|
October 2009 |
An integrated encyclopedia of DNA elements in the human genome
|
journal
|
September 2012 |
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|
journal
|
September 2012 |
Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data
|
journal
|
May 2013 |
Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders
|
journal
|
April 2012 |
Semantic Similarity in a Taxonomy: An Information-Based Measure and its Application to Problems of Ambiguity in Natural Language
|
journal
|
July 1999 |
Chromosome organization: new facts, new models
|
journal
|
March 2007 |
Measuring reproducibility of high-throughput experiments
|
journal
|
September 2011 |
Williams–Beuren Syndrome
|
journal
|
June 2010 |
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
|
journal
|
March 2013 |
VISTA Enhancer Browser--a database of tissue-specific human enhancers
|
journal
|
January 2007 |
Chromatin insulators and long-distance interactions in Drosophila
|
journal
|
November 2013 |
Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation
|
journal
|
November 2008 |
Williams-Beuren syndrome
|
reference-book
|
January 2009 |
Insulators, Not Polycomb Response Elements, Are Required for Long-Range Interactions between Polycomb Targets in Drosophila melanogaster
|
journal
|
December 2010 |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
|
journal
|
March 2011 |
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
|
journal
|
June 2012 |
Role of fibroblast growth factor receptor signaling in kidney development
|
journal
|
September 2011 |
High-Resolution Mapping and Characterization of Open Chromatin across the Genome
|
journal
|
January 2008 |
Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
|
journal
|
July 2013 |
Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation
|
journal
|
April 2010 |
Novel cystogenic role of basic fibroblast growth factor in developing rodent kidneys
|
journal
|
August 2006 |
Clinical Significance of De Novo and Inherited Copy-Number Variation
|
journal
|
October 2013 |
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
|
journal
|
January 2013 |
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
|
journal
|
January 2013 |
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
|
journal
|
October 2012 |
LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition
|
journal
|
July 1996 |
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
|
journal
|
October 2010 |
Identification and Characterization of Cell Type–Specific and Ubiquitous Chromatin Regulatory Structures in the Human Genome
|
journal
|
August 2007 |
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
|
journal
|
July 2008 |
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies
|
journal
|
September 1990 |
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
|
journal
|
September 2012 |
The UCSC Genome Browser Database: update 2006
|
journal
|
January 2006 |
Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome
|
journal
|
January 2005 |
The UCSC Genome Browser database: 2014 update
|
journal
|
November 2013 |
Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity
|
text
|
January 2011 |
Topological domains in mammalian genomes identified by analysis of chromatin interactions
|
journal
|
April 2012 |
Pairing between gypsy Insulators Facilitates the Enhancer Action in trans throughout the Drosophila Genome
|
journal
|
November 2005 |
An integrated encyclopedia of DNA elements in the human genome
- Libraries, The University of North Carolina at Chapel Hill University
-
The University of North Carolina at Chapel Hill University Libraries
https://doi.org/10.17615/wcvb-k036
|
text
|
January 2012 |
Enhancer-adoption as a mechanism of human developmental disease
|
journal
|
October 2011 |
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
|
journal
|
October 2012 |
BEDTools: a flexible suite of utilities for comparing genomic features
|
journal
|
January 2010 |
Williams–Beuren Syndrome
|
journal
|
January 2010 |
Structural variations, the regulatory landscape of the genome and their alteration in human disease: Prospects & Overviews
|
journal
|
April 2013 |
Semantic Similarity in a Taxonomy: An Information-Based Measure and its Application to Problems of Ambiguity in Natural Language
|
text
|
January 2011 |
Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity
|
journal
|
July 2011 |
Identical cells with different 3D genomes; cause and consequences?
|
journal
|
April 2013 |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
|
text
|
January 2011 |
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
|
journal
|
November 2013 |
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis of five families with deletions in the Williams syndrome region
|
journal
|
October 2003 |
Looping and Interaction between Hypersensitive Sites in the Active β-globin Locus
|
journal
|
December 2002 |
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
|
journal
|
September 2012 |
The bicoid-related homeoprotein Ptx1 defines the most anterior domain of the embryo and differentiates posterior from anterior lateral mesoderm
|
journal
|
July 1997 |