An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients-Reference-Cited by-同舟云学术

An AugmentedABCA4Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Published:2014-12-30 Issue:1 Volume:36 Page:39-42
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bauwens Miriam¹,De Zaeytijd Julie²,Weisschuh Nicole³,Kohl Susanne³,Meire Françoise⁴,Dahan Karin⁵,Depasse Fanny⁴,De Jaegere Sarah¹,De Ravel Thomy⁶,De Rademaeker Marjan⁷,Loeys Bart⁸,Coppieters Frauke¹,Leroy Bart P.¹²⁹,De Baere Elfride¹

Affiliation:

1. Center for Medical Genetics; Ghent University and Ghent University Hospital; Ghent Belgium

2. Department of Ophthalmology; Ghent University Hospital; Ghent Belgium

3. Molecular Genetics Laboratory; Institute for Ophthalmic Research; Centre for Ophthalmology; University of Tuebingen; Tuebingen Germany

4. Department of Ophthalmology; Queen Fabiola Children's University Hospital; Brussels Belgium

5. Centre de génétique humaine; Institut de Pathologie et de Génétique; Gosselies Belgium

6. Center for Human Genetics; Leuven University Hospitals; Leuven Belgium

7. Center for Medical Genetics; Free University of Brussels; Brussels Belgium

8. Center for Medical Genetics; University of Antwerp and Antwerp University Hospital; Antwerp Belgium

9. Division of Ophthalmology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

Interuniversitary attraction Pole (IAP) (Belspo): Belgian Medical Genomics Initiative (BeMGI)

Research Foundation Flanders (FWO)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22716/fullpdf

Reference11 articles.

1. Annotation of functional variation in personal genomes using RegulomeDB;Boyle;Genome Res,2012

2. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease;Braun;Hum Mol Genet,2013

3. An integrated encyclopedia of DNA elements in the human genome;Encode Project Consortium;Nature,2012

4. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration;Guymer;Arch Ophthalmol,2001

5. Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing;Lim;Bioinformatics,2012

Cited by 56 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants;Molecular Therapy - Nucleic Acids;2024-03

2. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-01

3. Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability;Human Genetics and Genomics Advances;2023-10

4. Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients;Scientific Reports;2023-06-09

5. Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations;Investigative Opthalmology & Visual Science;2022-06-03