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
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.
Lin Y et al.
Experimental and Therapeutic Medicine, 2021
Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases.
Mauro-Herrera M et al.
Genes, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s002.pdf
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C et al.
Scientific Reports, 2019
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014
Regulation of bestrophin Cl channels by calcium: role of the C terminus.
Xiao Q et al.
The Journal of General Physiology, 2008
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