ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants (Q91168951)

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scientific article published on 23 January 2019

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English	ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants	scientific article published on 23 January 2019

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20 April 2020

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants (English)

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Riccardo Sangermano

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Caroline Van Cauwenbergh

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Elfride De Baere

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Miriam Bauwens

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Alejandro Garanto

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Sarah Naessens

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Nicole Weisschuh

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Julie De Zaeytijd

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Mubeen Khan

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Françoise Sadler

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Irina Balikova

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Toon Rosseel

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Jim Bauwens

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Kim De Leeneer

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Sarah De Jaegere

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Thalia Van Laethem

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20 April 2020

Meindert De Vries

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20 April 2020

Keren Carss

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20 April 2020

Gavin Arno

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20 April 2020

Ana Fakin

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20 April 2020

Andrew R Webster

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Thomy J L de Ravel de l'Argentière

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20 April 2020

Yves Sznajer

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20 April 2020

Marnik Vuylsteke

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20 April 2020

Susanne Kohl

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20 April 2020

Bernd Wissinger

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20 April 2020

Timothy Cherry

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20 April 2020

Rob W J Collin

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20 April 2020

Frans P M Cremers

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Bart P Leroy

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23 January 2019

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20 April 2020

Genetics in Medicine

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20 April 2020

21

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20 April 2020

8

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20 April 2020

1761-1771

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20 April 2020

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Early-onset stargardt disease: phenotypic and genotypic characteristics

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

ABCR unites what ophthalmologists divide(s)

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

An ABCA4 genomic deletion in patients with Stargardt disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the ABCA4 genomic locus in Stargardt disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

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Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

An update on LNCipedia: a database for annotated human lncRNA sequences

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0420-Y

7 January 2021

based on heuristic

inferred from DOI database lookup

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the ABCA4 gene by next-generation sequencing

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.

1 reference

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20 April 2020

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20 April 2020

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20 April 2020

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