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
Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
Asghar A et al.
Molecular Vision, 2025
Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation.
Savastano MC et al.
Translational Vision Science & Technology, 2024
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy.
Serra R et al.
Bmc Ophthalmology, 2024
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 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
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
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 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
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A et al.
International Journal of Molecular Sciences, 2021
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T et al.
The British Journal of Ophthalmology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Falsini B et al.
Diagnostics (basel, Switzerland), 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
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
Inaba A et al.
International Journal of Molecular Sciences, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
Karali M et al.
International Journal of Molecular Sciences, 2019
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.
Luo H et al.
Bmc Medical Genomics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Visual Cortical Plasticity in Retinitis Pigmentosa.
Lunghi C et al.
Investigative Ophthalmology & Visual Science, 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
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi CM et al.
Scientific Reports, 2017
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
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.
Hettinga YM et al.
Ophthalmology, 2016
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP et al.
Hearing Research, 2016
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L et al.
Orphanet Journal of Rare Diseases, 2015
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
Lenarduzzi S et al.
Hearing Research, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
Audiometric characteristics of USH2a patients.
Leijendeckers JM et al.
Audiology & Neuro-otology, 2009
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W et al.
Investigative Ophthalmology & Visual Science, 2008
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0