Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Xia XX et al.
Stem Cell Research, 2026
Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
Valenzano R et al.
International Journal of Molecular Sciences, 2026
AAV-mediated exon skipping therapy for Usher syndrome, type 2A.
Mauriac SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa.
Adani E et al.
Investigative Ophthalmology & Visual Science, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.
Sanjurjo-Soriano C et al.
Molecular Therapy. Methods & Clinical Development, 2025
Ethnic disparities in inherited retinal degenerations.
Stephenson KAJ et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2025
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
USH2A-Mutated Human Retinal Organoids Model Rod-Cone Dystrophy.
Ashworth KE et al.
Investigative Ophthalmology & Visual Science, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.
Li W et al.
Investigative Ophthalmology & Visual Science, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.
Niepokój K et al.
Journal of Applied Genetics, 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2025
Syndromic retinitis pigmentosa.
Karuntu JS et al.
Progress in Retinal and Eye Research, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida.
Cromar ZJ et al.
Human Genomics, 2025
The RNA content of extracellular vesicles from gene-edited PRPF31 +/- hiPSC-RPE show potential as biomarkers of retinal degeneration.
Getachew H et al.
Molecular Therapy. Methods & Clinical Development, 2025
Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches.
Gómez-Escribano AP et al.
Ebiomedicine, 2025
High Resolution Imaging and Fixation Analysis of Eccentric Preferred Retinal Loci in Macular Diseases.
Kolawole OU et al.
Investigative Ophthalmology & Visual Science, 2025
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 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
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.
Fry LE et al.
Communications Biology, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T et al.
Orphanet Journal of Rare Diseases, 2025
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy.
Antropoli A et al.
European Journal of Ophthalmology, 2025
A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.
Tebbe L et al.
Advances in Experimental Medicine and Biology, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.
Li H et al.
Frontiers in Genetics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B et al.
Molecular Therapy. Nucleic Acids, 2024
Taxane-induced retinal toxicity in a pathogenic USH2A variant carrier.
Mohan N et al.
Indian Journal of Ophthalmology, 2024
Authors' Response: The disastrous triple hit-taxane-induced retinal toxicity in a patient with breast cancer and a pathogenic USH2A variant.
Moreker MR
Indian Journal of Ophthalmology, 2024