Looking beyond the genes: the role of non-coding variants in human disease (Q38880251)

7 September 2017

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title

Looking beyond the genes: the role of non-coding variants in human disease (English)

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7 September 2017

2

Stefan Mundlos

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7 September 2017

1

Malte Spielmann

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PubMed ID

27354350

7 September 2017

language of work or name

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27 June 2016

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7 September 2017

Human Molecular Genetics

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Next-generation human genetics

7 September 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Computational approaches to interpreting genomic sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

The ENCODE (ENCyclopedia Of DNA Elements) Project

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

An integrated encyclopedia of DNA elements in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Genomics: ENCODE explained

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

CNVs of noncoding cis-regulatory elements in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Functional and topological characteristics of mammalian regulatory domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Transcription factors: from enhancer binding to developmental control

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Topology of mammalian developmental enhancers and their regulatory landscapes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

The beta-globin nuclear compartment in development and erythroid differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A decade of 3C technologies: insights into nuclear organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Capturing chromosome conformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Reactivation of developmentally silenced globin genes by forced chromatin looping.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Single-cell Hi-C reveals cell-to-cell variability in chromosome structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Topological domains in mammalian genomes identified by analysis of chromatin interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Three-dimensional folding and functional organization principles of the Drosophila genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Insulator function and topological domain border strength scale with architectural protein occupancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Comparative Hi-C reveals that CTCF underlies evolution of chromosomal domain architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Deletions of chromosomal regulatory boundaries are associated with congenital disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Mutations in PTF1A cause pancreatic and cerebellar agenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Coding exons function as tissue-specific enhancers of nearby genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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/10.1093%2FHMG%2FDDW205

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A SOX9 duplication and familial 46,XX developmental testicular disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

The brachydactylies: a molecular disease family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Making Biological Sense of GWAS Data: Lessons from the FTO Locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Long-range enhancers regulating Myc expression are required for normal facial morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Hallmarks of Cancer: The Next Generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Transcriptional regulation and its misregulation in disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

TAD disruption as oncogenic driver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Insulator dysfunction and oncogene activation in IDH mutant gliomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

CTCF/cohesin-binding sites are frequently mutated in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

3D Chromosome Regulatory Landscape of Human Pluripotent Cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW205

21 January 2018

Identifiers

0 references

1 reference

PubMed ID

27354350