Associated Papers
Longitudinal study in autosomal recessive PROM1 inherited retinal disease.
Yates WB et al.
Ophthalmic Genetics, 2025
The pathogenicity of a novel frame-shift variant c.2321delC of PROM1 in an autosomal recessive cone-rod dystrophy pedigree may be associated with augment of autophagy.
Wu C et al.
Experimental Eye Research, 2025
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
Corrigendum to "Splicing mutations in inherited retinal diseases" [Prog. Retin. Eye Res. 80 (2021) 100874].
Weisschuh N et al.
Progress in Retinal and Eye Research, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.
Park JC et al.
Translational Vision Science & Technology, 2020
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
Ragi SD et al.
Cold Spring Harbor Molecular Case Studies, 2019
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Del Pozo-Valero M et al.
American Journal of Ophthalmology, 2019
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J et al.
Jama Network Open, 2019
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Liang J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Mayer AK et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N et al.
Plos One, 2016
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O et al.
Molecular Vision, 2015