Associated Papers
Corrigendum to "Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best's disease patient with c.763C > T mutation in BEST1 gene" [Stem Cell Res. 88 (2025) 103806].
Jiang Y et al.
Stem Cell Research, 2025
Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best's disease patient with c.763C > T mutation in BEST1 gene.
Jiang Y et al.
Stem Cell Research, 2025
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
Clinical and Genetic Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.
Nguyen TTT et al.
Biomedicines, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
Zhao D et al.
Bmc 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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Cideciyan AV et al.
Vision Research, 2023
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Yang S et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.
Kim HR et al.
Genes, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up.
Zhang L et al.
Frontiers in Genetics, 2022
Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.
Lin Y et al.
Experimental and Therapeutic Medicine, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 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
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.
Ye P et al.
Bmc Medical Genetics, 2020
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Nakanishi A et al.
Retina (philadelphia, Pa.), 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
Luo J et al.
Acta Ophthalmologica, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
Gao T et al.
Biomed Research International, 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
Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.
Zhong Y et al.
Plos One, 2017
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
Nakanishi A et al.
American Journal of Ophthalmology, 2016
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
Huang X et al.
International Journal of Molecular Medicine, 2015
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
Tian R et al.
Molecular Vision, 2014
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy.
Wong RL et al.
Retina (philadelphia, Pa.), 2010
[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].
Ouyang YL et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008