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
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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_s001.pdf
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J et al.
Ophthalmology. Retina, 2020
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I et al.
Genes, 2019
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization.
Introini U et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2018
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