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
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 2025
PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.
Kang M et al.
Journal of Veterinary Science, 2025
Canine Best disease as a translational model.
Aguirre GD et al.
Eye (london, England), 2025
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.
Majchrakova Z et al.
Plos One, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.
Battaglia Parodi M et al.
Translational Vision Science & Technology, 2022
Clinical and molecular findings in patients with pattern dystrophy.
Sodi A et al.
Ophthalmic Genetics, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ et al.
The British Journal of Ophthalmology, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Nakanishi A et al.
Retina (philadelphia, Pa.), 2020
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Guziewicz KE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.
Battaglia Parodi M et al.
American Journal of Ophthalmology, 2018
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2017
Bestrophinopathy: An RPE-photoreceptor interface disease.
Guziewicz KE et al.
Progress in Retinal and Eye Research, 2017
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.
Peiretti E et al.
Retina (philadelphia, Pa.), 2016
Unilateral BEST1-Associated Retinopathy.
Arora R et al.
American Journal of Ophthalmology, 2016
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
Nakanishi A et al.
American Journal of Ophthalmology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.
Donner J et al.
Plos One, 2016
Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
Katagiri S et al.
The British Journal of Ophthalmology, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
Parodi MB et al.
American Journal of Ophthalmology, 2014
Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel.
Gornik KR et al.
Veterinary Ophthalmology, 2014
Effects of alternative splicing on the function of bestrophin-1 calcium-activated chloride channels.
Kuo YH et al.
The Biochemical Journal, 2014
Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations.
Beltran WA et al.
Plos One, 2014
Multimodal analysis of the progression of Best vitelliform macular dystrophy.
Querques G et al.
Molecular Vision, 2014
The genetics of eye disorders in the dog.
Mellersh CS
Canine Genetics and Epidemiology, 2014
Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.
Guziewicz KE et al.
Plos One, 2013
Canine multifocal retinopathy in the Australian Shepherd: a case report.
Hoffmann I et al.
Veterinary Ophthalmology, 2012
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.
Miyadera K et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012
Modeling the structural consequences of BEST1 missense mutations.
Guziewicz KE et al.
Advances in Experimental Medicine and Biology, 2012
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
Sodi A et al.
Molecular Vision, 2012
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Querques G et al.
Investigative Ophthalmology & Visual Science, 2011
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2011