Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (Q49075196)

http://europepmc.org/abstract/PMC/5787040

18 February 2018

title

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (English)

1 reference

http://europepmc.org/abstract/PMC/5787040

18 February 2018

1 reference

1 reference

Caroline Van Cauwenbergh

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28749477%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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6 June 2020

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6 June 2020

Kristof Van Schil

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6 June 2020

Sarah Naessens

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6 June 2020

Stijn Van de Sompele

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6 June 2020

Marjolein Carron

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6 June 2020

Alexander Aslanidis

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6 June 2020

Anja Kathrin Mayer

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6 June 2020

Mattias Van Heetvelde

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6 June 2020

Miriam Bauwens

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6 June 2020

Hannah Verdin

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6 June 2020

Michael E Greenberg

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6 June 2020

Marty G Yang

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6 June 2020

Marcus Karlstetter

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6 June 2020

Thomas Langmann

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6 June 2020

Katleen De Preter

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6 June 2020

Susanne Kohl

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6 June 2020

Timothy J Cherry

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6 June 2020

Bart P Leroy

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6 June 2020

CNV Study Group

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6 June 2020

language of work or name

English

0 references

publication date

27 July 2017

1 reference

http://europepmc.org/abstract/PMC/5787040

18 February 2018

published in

Genetics in Medicine

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6 June 2020

volume

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6 June 2020

issue

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6 June 2020

page(s)

202-213

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

6 June 2020

cites work

1 reference

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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

22 May 2018

1 reference

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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

22 May 2018

1 reference

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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

22 May 2018

1 reference

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Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

22 May 2018

1 reference

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Major influence of repetitive elements on disease-associated copy number variants (CNVs)

22 May 2018

1 reference

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arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

22 May 2018

1 reference

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Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Mechanisms underlying structural variant formation in genomic disorders

22 May 2018

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

22 May 2018

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Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

22 May 2018

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Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

22 May 2018

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations

22 May 2018

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North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

22 May 2018

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Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

22 May 2018

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MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers

22 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

ATAC-seq: A Method for Assaying Chromatin Accessibility Genome-Wide

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

An evaluation of copy number variation detection tools from whole-exome sequencing data

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

22 May 2018

1 reference

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Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP

22 May 2018

1 reference

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

22 May 2018

1 reference

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Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase

22 May 2018

1 reference

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Widespread transcription at neuronal activity-regulated enhancers

22 May 2018

1 reference

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Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Electroporation and RNA interference in the rodent retina in vivo and in vitro

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5787040

Isolation of a novel gene underlying batten disease, CLN3

22 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2017.97

21 January 2018

Identifiers

DOI

10.1038/GIM.2017.97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28749477%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28749477%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

28749477

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28749477%20AND%20SRC:MED&resulttype=core&format=json