Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
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
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.
Hemptinne C et al.
Ophthalmic Genetics, 2023
Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye.
Remolí Sargues L et al.
European Journal of Ophthalmology, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
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
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
Meunier I et al.
Ophthalmology, 2011
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
Piñeiro-Gallego T et al.
Molecular Vision, 2011
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