Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Cideciyan AV et al.
Vision Research, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G et al.
Ophthalmology, 2021
Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.
Khojasteh H et al.
Journal of Ophthalmology, 2021
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.
Low S et al.
Eye (london, England), 2020
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Nakanishi A et al.
Retina (philadelphia, Pa.), 2020
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Guziewicz KE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
Gao T et al.
Biomed Research International, 2018
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
Nakanishi A et al.
American Journal of Ophthalmology, 2016
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.
Davidson AE et al.
Molecular Vision, 2010
Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy.
Zhang Y et al.
Journal of Vitreoretinal Diseases, 0