In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases-Reference-Cited by-同舟云学术

In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases

Published:2017-02-03 Issue:4 Volume:38 Page:400-408
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cornelis Stéphanie S.¹²,Bax Nathalie M.²³,Zernant Jana⁴,Allikmets Rando⁴⁵,Fritsche Lars G.⁶,den Dunnen Johan T.⁷,Ajmal Muhammad⁸,Hoyng Carel B.²³,Cremers Frans P.M.¹³

Affiliation:

1. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

2. Department of Ophthalmology; Radboud University Medical Center; Nijmegen The Netherlands

3. Donders Institute for Brain; Cognition and Behaviour; Radboud University; Nijmegen The Netherlands

4. Department of Ophthalmology; Columbia University; New York New York

5. Department of Pathology & Cell Biology; Columbia University; New York New York

6. Department of Public Health; K.G. Jebsen Center for Genetic Epidemiology; NTNU; Norwegian University of Science and Technology; Trondheim Norway

7. Departments of Clinical Genetics and Human Genetics; Leiden University Medical Center; Leiden The Netherlands

8. Department of Biosciences; Faculty of Science; COMSATS Institute of Information Technology; Islamabad Pakistan

Funder

ProRetina

Christina Fasser

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference57 articles.

1. Functional interaction between the two halves of the photoreceptor-specific ATP binding cassette protein ABCR (ABCA4) evidence for a non-exchangeable ADP in the first nucleotide binding domain;Ahn;J Biol Chem,2003

2. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration;Allikmets;Science,1997a

3. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy;Allikmets;Nat Genet,1997b

4. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients;Bauwens;Hum Mutat,2015

5. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant;Bax;Hum Mutat,2015

Cited by 108 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. Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort;Gene;2024-01

2. Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework;Human Mutation;2023-12-26

3. KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3;British Journal of Ophthalmology;2023-10-18

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

5. ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease;Frontiers in Genetics;2023-09-07