Associated Papers
CDH23-associated Usher syndrome: genotype-phenotype correlations.
de Guimaraes TAC et al.
Ophthalmic Genetics, 2026
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.
Dhoble P et al.
Ophthalmic Genetics, 2024
Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.
Tom WA et al.
International Journal of Molecular Sciences, 2024
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.
de Guimaraes TAC et al.
Investigative Ophthalmology & Visual Science, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
Elsayed O et al.
Molecular Genetics & Genomic Medicine, 2022
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
Wonkam A et al.
Communications Biology, 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
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Wafa TT et al.
Clinical Genetics, 2021
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
Georgiou M et al.
American Journal of Ophthalmology, 2021
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene.
Al Dhahouri N et al.
Frontiers in Pediatrics, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel.
Kannan-Sundhari A et al.
Genetic Testing and Molecular Biomarkers, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
Svidnicki MC et al.
Bmc Medical Genetics, 2015
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Zhao L et al.
Human Genetics, 2015
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.
Lu Y et al.
Journal of Human Genetics, 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
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Kimberling WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
Becirovic E et al.
Human Mutation, 2008
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Astuto LM et al.
American Journal of Human Genetics, 2002
Clinical presentation of DFNB12 and Usher syndrome type 1D.
Bork JM et al.
Advances in Oto-rhino-laryngology, 2002
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H et al.
Nature Genetics, 2001