Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
Kim JA et al.
Experimental & Molecular Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
de Guimaraes TAC et al.
Investigative Ophthalmology & Visual Science, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Khorram E et al.
Audiology & Neuro-otology, 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
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Usami SI et al.
Human Genetics, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.
Fry LE et al.
Jama Ophthalmology, 2021
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
Valero R et al.
Genes, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?
Noonan KY et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S et al.
Molecular Genetics & Genomic Medicine, 2016
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Schultz JM et al.
Journal of Medical Genetics, 2011
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Vaché C et al.
Human Mutation, 2010
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.
Oshima A et al.
Human Mutation, 2008
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA et al.
Ear and Hearing, 0