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
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.
Li Y et al.
British Journal of Haematology, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Systematic empirical evaluation of individual base editing targets: Validating therapeutic targets in USH2A and comparison of methods.
Tachida Y et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Rescue of the disease-associated phenotype in CRISPR-corrected hiPSCs as a therapeutic approach for inherited retinal dystrophies.
Siles L et al.
Molecular Therapy. Nucleic Acids, 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
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
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
Identification of pathogenic variants for the development of ultra-long axial length in myopic children.
Zhu Y et al.
Plos One, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Cortinhal T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.
Nam DW et al.
Scientific Reports, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.
Huang Y et al.
Frontiers in Cell and Developmental 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
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
Reurink J et al.
International Journal of Molecular Sciences, 2022
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L et al.
Ophthalmic Research, 2022
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Su BN et al.
Frontiers in Aging Neuroscience, 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.
Liu X et al.
Genes, 2021
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN et al.
Bmc Ophthalmology, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.
Riera M et al.
Stem Cell Research, 2019
Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy.
Galli-Resta L et al.
Investigative Ophthalmology & Visual Science, 2018
Retinal miRNAs variations in a large cohort of inherited retinal disease.
Huang XF et al.
Ophthalmic Genetics, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A et al.
Investigative Ophthalmology & Visual Science, 2018
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C et al.
Molecular Genetics & Genomic Medicine, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E et al.
European Journal of Human Genetics : Ejhg, 2015