• <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 case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome
• 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 Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation
• 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: <em>De novo</em> pathogenic variant in <em>WFS1</em> causes Wolfram-like syndrome debuting with congenital bilateral deafness
• Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss
• Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
• CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
• Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration
• 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
• Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration
• Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated 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
• Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation
• Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
• Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
• Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model
• Functional Vision in Patients With Biallelic USH2A Variants
• Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A
• 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
• Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel
• Hereditary hearing loss
• 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
• Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report
• International Systematic Review of Utility Values Associated with Cardiovascular Disease and Reflections on Selecting Evidence for a UK Decision-Analytic Model
• Intravenous immunoglobulin for the treatment of Kawasaki disease
• Investigating Splice Defects in <em>USH2A</em> Using Targeted Long-Read Sequencing
• Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
• Long COVID-six months of prospective follow-up of changes in symptom profiles of non-hospitalised children and young people after SARS-CoV-2 testing: A national matched cohort study (The CLoCk) study
• Mental health in the COVID-19 pandemic: A longitudinal analysis of the CLoCk cohort study
• Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F
• Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <em>USH2A</em>
• 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
• Natural Disease Course in Usher Syndrome Patients Harboring <em>USH2A</em> Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
• Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy
• New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome
• New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family
• Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss
• Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss
• Novel pathogenic WHRN variant causing hearing loss in a moroccan family
• Ocular Manifestations in Patients with Sensorineural Hearing Loss
• Optimization of Capillary-Based Western Blotting for MYO7A
• Outcomes of cochlear implantation in children with Usher syndrome: a long-term observation
• Outcomes of cochlear implantation in Usher syndrome: a systematic review
• Pathogenic Variants in <em>USH1G</em>/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
• Plaque Burden and 1-Year Outcomes in Acute Chest Pain: Results From the Multicenter RAPID-CTCA Trial
• 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
• SOX-1 antibodies in a patient with Crohn's disease: a case report
• Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
• Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype
• Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
• 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
• Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation
• The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy
• 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
• The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1
• Third-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B
• Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B
• USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss
• USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
• 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
• 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 genome sequencing for <em>USH2A</em>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
• Whole-Exome Sequencing for Identification of Potential Sex-Biased Variants in Kawasaki Disease Patients