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
Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.
Kong MD et al.
International Journal of Molecular Sciences, 2025
40724865 (PubMed )
Supplement: ijms-26-06615-s001.zip › Supplemental_Table_S1.pdf
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Bianco L et al.
Ophthalmology. Retina, 2024
Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient.
Zhao B et al.
Bmc Ophthalmology, 2023
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.
Kim HR et al.
Genes, 2022
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
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.
Jun I et al.
Scientific Reports, 2017
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