(Q38880251)

7 September 2017

1 reference

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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7 September 2017

language of work or name

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27 June 2016

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7 September 2017

published in

Human Molecular Genetics

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Next-generation human genetics

7 September 2017

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A copy number variation morbidity map of developmental delay

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

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Topology of mammalian developmental enhancers and their regulatory landscapes

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The beta-globin nuclear compartment in development and erythroid differentiation

21 January 2018

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A decade of 3C technologies: insights into nuclear organization

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Capturing chromosome conformation

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Reactivation of developmentally silenced globin genes by forced chromatin looping.

21 January 2018

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

21 January 2018

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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Deletions of chromosomal regulatory boundaries are associated with congenital disease

21 January 2018

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

21 January 2018

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Mutations in PTF1A cause pancreatic and cerebellar agenesis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

21 January 2018

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

21 January 2018

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Coding exons function as tissue-specific enhancers of nearby genes

21 January 2018

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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

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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

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

21 January 2018

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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A SOX9 duplication and familial 46,XX developmental testicular disorder

21 January 2018

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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

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

21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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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

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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

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

3D Chromosome Regulatory Landscape of Human Pluripotent Cells.

21 January 2018

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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

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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

DOI

10.1093/HMG/DDW205

0 references

1 reference