Associated Papers
Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.
Wei X et al.
American Journal of Ophthalmology, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Elbagoury NM et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 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 landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Angle closure glaucoma in a patient with X-linked retinoschisis: a case report.
Yao L et al.
International Journal of Ophthalmology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC.
Sun X et al.
Stem Cell Research, 2024
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.
Wei X et al.
Investigative Ophthalmology & Visual Science, 2024
Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.
Mao S et al.
Stem Cell Research, 2023
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
X-linked Retinoschisis with Near-Normal Macular Structure and Function.
Kiraly P et al.
Ophthalmology. Retina, 2023
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.
Chatterjee S et al.
American Journal of Medical Genetics. Part A, 2023
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.
Kirkby J et al.
Genes, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Kolawole OU et al.
Molecular Vision, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1.
Tondelli NN et al.
Ophthalmic Genetics, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Spontaneous resolution of schitic cavities in XLRS.
Campbell TG et al.
Ophthalmic Genetics, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan AO
Retina (philadelphia, Pa.), 2020
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation.
Yan X et al.
Stem Cell Research, 2019
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.
Selvan H et al.
Indian Journal of Ophthalmology, 2019
Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.
Khan AO et al.
Ophthalmic Genetics, 2019
A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.
Lee ES et al.
Annals of Laboratory Medicine, 2019
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
Cukras C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Peripheral fundus findings in X-linked retinoschisis.
Fahim AT et al.
The British Journal of Ophthalmology, 2017
Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.
Cheng C et al.
Gigascience, 2016
The gene mutation in a Taiwanese family with X-linked retinoschisis.
Huang CT et al.
The Kaohsiung Journal of Medical Sciences, 2015
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.
Wang NK et al.
Molecular Vision, 2015
R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.
Huang XF et al.
International Journal of Ophthalmology, 2014