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
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.
Augstburger E et al.
American Journal of Ophthalmology, 2019
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V et al.
Journal of Translational Medicine, 2019
Best vitelliform macular dystrophy in a large Brazilian family.
de Souza CPR et al.
International Journal of Retina and Vitreous, 2019
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN et al.
Retina (philadelphia, Pa.), 2017
Unilateral BEST1-Associated Retinopathy.
Arora R et al.
American Journal of Ophthalmology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Liu J et al.
Ophthalmic Research, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
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