Associated Papers
Glucosylsphingosine is a potential fluid-based biomarker of lysosomal dysfunction in Cln3Δex7/8 mice.
Wald H et al.
Neurobiology of Disease, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM et al.
Ophthalmic Genetics, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.
Zhang X et al.
Molecular Vision, 2024
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S et al.
Human Molecular Genetics, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes.
Kolesnikova M et al.
Investigative Ophthalmology & Visual Science, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S et al.
Biorxiv : the Preprint Server for Biology, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2021
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Mizobuchi K et al.
Molecular Genetics & Genomic Medicine, 2020
Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
Kleine Holthaus SM et al.
Human Gene Therapy, 2020
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
Chen FK et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2019
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line.
Zhang X et al.
Stem Cell Research, 2018
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
Eye involvement in inherited metabolic disorders.
Davison JE
Therapeutic Advances in Ophthalmology, 0