• "Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance"
• A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
• A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy
• A novel mutation of BEST1 gene in Best disease
• A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
• A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)
• A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
• ADULT-ONSET BEST1 -VITELLIFORM DYSTROPHY ASSOCIATED WITH ANGIOID STREAK-LIKE CHANGES IN TWO SIBLINGS
• Advantages of nanofibrous membranes for culturing of primary RPE cells compared to commercial scaffolds
• Allele and genotype frequencies for primary hereditary cataract, multifocal retinopathy 1, and degenerative myelopathy in Pyrenean Mountain dog from Italy
• Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model
• An efficient inducible RPE-Selective cre transgenic mouse line
• ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY
• Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
• Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
• Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials
• Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population
• Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings
• BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
• BEST1-One Gene, Many Diseases
• Bestrophin1: A Gene that Causes Many Diseases
• Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies
• Branch retina vein occlusion combined with angle-closure glaucoma is associated with a mutation in BEST1: a case report
• CHOROIDAL NEVUS ASSOCIATED WITH VITELLIFORM DEPOSITION IN A PATIENT WITH AUTOSOMAL DOMINANT BEST DYSTROPHY
• Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort
• Clinical and molecular findings in patients with pattern dystrophy
• Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
• Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization
• Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <em>BEST1</em> Gene
• Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
• Clinical reassessments and whole-exome sequencing uncover novel <em>BEST1</em> mutation associated with bestrophinopathy phenotype
• Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype
• Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
• Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review
• Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy
• CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously
• Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
• Development of retinal bullae in dogs with progressive retinal atrophy
• Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
• Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells
• Distinct expression requirements and rescue strategies for <em>BEST1</em> loss- and gain-of-function mutations
• Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations
• Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile
• Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes
• Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials
• Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations
• Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
• Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
• Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy
• Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes
• Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland
• Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy
• Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation
• Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy
• Induction of Heat Shock Protein 70 in Mouse RPE as an In Vivo Model of Transpupillary Thermal Stimulation
• Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies
• KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells
• Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
• Macular neovascularisation in inherited retinal diseases: A review
• Miscibility of hBest1 and sphingomyelin in surface films - A prerequisite for interaction with membrane domains
• Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series
• Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy
• Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights
• Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies
• Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
• Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
• Near-infrared Fundus Autofluorescence: Clinical Application and Diagnostic Relevance
• Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging
• Novel <em>BEST1</em> mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
• Novel <em>IMPG2</em> variant causing adult macular vitelliform dystrophy: A case report
• Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
• Novel mutations in the <em>BEST1</em> gene cause distinct retinopathies in two Chinese families
• Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families
• Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
• Novel variants associated with Stargardt disease in Chinese patients
• Nrf2 overexpression rescues the RPE in mouse models of retinitis pigmentosa
• Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
• Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report
• Peripapillary Sparing in Autosomal Recessive Bestrophinopathy
• Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy
• Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndro
• Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
• Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations
• Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations
• Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration
• Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy
• Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
• Retinal imaging in inherited retinal diseases
• RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
• Self-organization and surface properties of hBest1 in models of biological membranes
• Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies
• Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium
• Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort
• Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
• The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies
• The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant
• Typical best vitelliform dystrophy secondary to biallelic variants in BEST1
• Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report
• Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases
• Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes