Deletions of chromosomal regulatory boundaries are associated with congenital disease (Q34271260)

1 August 2017

title

Deletions of chromosomal regulatory boundaries are associated with congenital disease (English)

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1 August 2017

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17

Peter N Robinson

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Melissa Haendel

7

Melissa Haendel

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Stefan Mundlos

15

Stefan Mundlos

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1 August 2017

9

Damian Smedley

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1 August 2017

Christopher J. Mungall

10

Christopher J Mungall

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1 August 2017

Jonas Ibn-Salem

1

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Nicole L Washington

Nicole L Washington

8

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Michael I Love

Michael I Love

3

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Sebastian Köhler

Sebastian Köhler

2

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Malte Spielmann

Malte Spielmann

16

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Suzanna Lewis

11

Suzanna E Lewis

1 reference

1 August 2017

13

Sebastian Bauer

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1 August 2017

Ho-Ryun Chung

4

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1 August 2017

Ni Huang

5

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1 August 2017

Matthew E Hurles

6

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1 August 2017

Claus-Eric Ott

12

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1 August 2017

Paul N Schofield

14

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1 August 2017

publication date

4 September 2014

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1 August 2017

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1 August 2017

volume

15

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1 August 2017

issue

9

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1 August 2017

page(s)

423

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Creative Commons Attribution 4.0 International

1 August 2017

copyright license

start time

1 September 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Phenotype ontologies and cross-species analysis for translational research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The UCSC Genome Browser database: 2014 update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Chromatin insulators and long-distance interactions in Drosophila

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Topology of mammalian developmental enhancers and their regulatory landscapes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Clinical significance of de novo and inherited copy-number variation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Structural variations, the regulatory landscape of the genome and their alteration in human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Identical cells with different 3D genomes; cause and consequences?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Systematic localization of common disease-associated variation in regulatory DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

An integrated encyclopedia of DNA elements in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Differential DNase I hypersensitivity reveals factor-dependent chromatin dynamics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Topological domains in mammalian genomes identified by analysis of chromatin interactions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Role of fibroblast growth factor receptor signaling in kidney development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Insulators, not Polycomb response elements, are required for long-range interactions between Polycomb targets in Drosophila melanogaster

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Characterising and predicting haploinsufficiency in the human genome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The NIH Roadmap Epigenomics Mapping Consortium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Accurate distinction of pathogenic from benign CNVs in mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

DNase-seq: a high-resolution technique for mapping active gene regulatory elements across the genome from mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

BEDTools: a flexible suite of utilities for comparing genomic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Williams-Beuren syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Comprehensive mapping of long-range interactions reveals folding principles of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

ChIP-seq accurately predicts tissue-specific activity of enhancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

FOXG1 is responsible for the congenital variant of Rett syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

High-resolution mapping and characterization of open chromatin across the genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Chromosome organization: new facts, new models

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

VISTA Enhancer Browser--a database of tissue-specific human enhancers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The UCSC Genome Browser Database: update 2006

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Pairing between gypsy insulators facilitates the enhancer action in trans throughout the Drosophila genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Looping and interaction between hypersensitive sites in the active beta-globin locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Diagnosis of multiple cancer types by shrunken centroids of gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

Enhancer-adoption as a mechanism of human developmental disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

Novel cystogenic role of basic fibroblast growth factor in developing rodent kidneys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

Multiple-laboratory comparison of microarray platforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13059-014-0423-1

Interpretation of genomic copy number variants using DECIPHER.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180961

10.1186/S13059-014-0423-1

28 October 2018

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1 August 2017

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1 reference

1 August 2017

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