Disease: Retinitis pigmentosa-deafness syndrome
- <em>USH2A</em> mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients
- <em>USH2A</em> variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
- A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases
- A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
- A New Mouse Model for Usher Syndrome Crossing Kunming Mice with CBA/J Mice
- A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome
- A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery
- Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature
- Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina
- Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy
- Advancing specificity in delirium: The delirium subtyping initiative
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
- Biomarkers for diagnosis and prognostication of acute aortic syndromes
- Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss
- CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
- Cochlear Implantation in Children with Additional Disabilities: A Systematic Review
- Comparing Research Priority-Setting Partnerships for Older Adults Across International Health Care Systems: A Systematic Review
- Current updates on genetic spectrum of usher syndrome
- Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
- Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
- Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
- Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model
- Functional Vision in Patients With Biallelic USH2A Variants
- Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with usher syndrome type 2 caused by biallelic variants in the USH2A gene
- Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant
- Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children
- Genetic diagnosis of childhood sensorineural hearing loss
- Genetic profile of syndromic retinitis pigmentosa in Portugal
- Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
- Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1
- High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
- High-Sensitivity Cardiac Troponin for Risk Assessment in Patients With Chronic Coronary Artery Disease
- Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
- Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report
- International Systematic Review of Utility Values Associated with Cardiovascular Disease and Reflections on Selecting Evidence for a UK Decision-Analytic Model
- Investigating Splice Defects in <em>USH2A</em> Using Targeted Long-Read Sequencing
- Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
- Mental health in the COVID-19 pandemic: A longitudinal analysis of the CLoCk cohort study
- Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23
- Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F
- Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
- Multidisciplinary approach to inherited causes of dual sensory impairment
- Multimodal imaging of USH2A rod-cone dystrophy: Case report
- Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits
- Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family
- Optimization of Capillary-Based Western Blotting for MYO7A
- Pathogenic Variants in <em>USH1G</em>/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
- PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F
- Recent advances in the application of induced pluripotent stem cell technology to the study of myeloid malignancies
- Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F
- RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency
- Screening copy number variations in 35 unsolved inherited retinal disease families
- Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire
- Senear-Usher syndrome (seborrheic pemphigus): An exceptional case
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
- Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype
- Successful large gene augmentation of USH2A with non-viral episomal vectors
- Symptom Profiles of Children and Young People 12 Months after SARS-CoV-2 Testing: A National Matched Cohort Study (The CLoCk Study)
- Syndromic Retinitis Pigmentosa: A 15-Patient Study
- Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
- The effects of ush2a gene knockout on vesicle transport in photoreceptors
- The genetic landscape of inherited retinal dystrophies in Arabs
- The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- Third-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B
- Usher syndrome in the United Arab Emirates
- Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
- Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
- Variants of <em>WFS1</em> identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
- Vestibular Impairment and Postural Development in Children With Bilateral Profound Hearing Loss
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2
- Whole-Exome Sequencing for Identification of Potential Sex-Biased Variants in Kawasaki Disease Patients