Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches.
Gómez-Escribano AP et al.
Ebiomedicine, 2025
State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics.
Nebbioso M et al.
Journal of Clinical Medicine, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 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
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Gene Editing for CEP290-Associated Retinal Degeneration.
Pierce EA et al.
The New England Journal of Medicine, 2024
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
McDonald A et al.
International Journal of Molecular Sciences, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.
Sather R et al.
International Journal of Molecular Sciences, 2024
Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes.
Cideciyan AV et al.
American Journal of Ophthalmology Case Reports, 2023
Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.
Duncan JL et al.
American Journal of Ophthalmology, 2023
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Corral-Serrano JC et al.
Cells, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
Eupatilin improves cilia defects in human CEP290 ciliopathy models.
Corral-Serrano JC et al.
Biorxiv : the Preprint Server for Biology, 2023
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2023
Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCACEP290 patients.
Minella AL et al.
Veterinary Ophthalmology, 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
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 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
Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial.
Cideciyan AV et al.
Ophthalmology Science, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial.
Russell SR et al.
Nature Medicine, 2022
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M et al.
The British Journal of Ophthalmology, 2022
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.
Chen BB et al.
Ophthalmic Genetics, 2022
Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.
Panikker P et al.
Frontiers in Medicine, 2022
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.
Spahiu L et al.
F1000research, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.
Martinez Velazquez LA et al.
International Journal of Molecular Sciences, 2021
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2021
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.
Leroy BP et al.
Retina (philadelphia, Pa.), 2021
RNA therapeutics for retinal diseases.
Gemayel MC et al.
Expert Opinion on Biological Therapy, 2021
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials.
Chiu W et al.
International Journal of Molecular Sciences, 2021
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.
Fry LE et al.
Jama Ophthalmology, 2021
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?
Han RC et al.
Expert Opinion on Orphan Drugs, 2021
Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing.
Hernández-Juárez J et al.
Frontiers in Medicine, 2021
Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss.
Botto C et al.
Frontiers in Genome Editing, 2021
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A et al.
Orphanet Journal of Rare Diseases, 2020
A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290.
Rafalska A et al.
Genes, 2020
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K et al.
Expert Opinion on Investigational Drugs, 2020
Implementation of a registry and open access genetic testing program for inherited retinal diseases within a non-profit foundation.
Mansfield BC et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020