Associated Papers
Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Bervoets S et al.
Cellular and Molecular Life Sciences : Cmls, 2026
[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique].
Li Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R et al.
Frontiers in Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs.
Abe S et al.
Cancers, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
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
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L et al.
Acta Ophthalmologica, 2021
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.
Fry LE et al.
Jama Ophthalmology, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde BS et al.
Clinical Genetics, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A et al.
Investigative Ophthalmology & Visual Science, 2018
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
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
Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.
Aparisi MJ et al.
Plos One, 2013
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
Jaijo T et al.
Journal of Medical Genetics, 2007
Development of a genotyping microarray for Usher syndrome.
Cremers FP et al.
Journal of Medical Genetics, 2007
Myosins and deafness.
Redowicz MJ
Journal of Muscle Research and Cell Motility, 1999
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
Janecke AR et al.
Human Mutation, 1999