Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K et al.
Human Molecular Genetics, 2023
The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling.
Schäfer J et al.
Frontiers in Cell and Developmental Biology, 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
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM et al.
Genes, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
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
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C et al.
European Journal of Human Genetics : Ejhg, 2016
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S et al.
Molecular Genetics & Genomic Medicine, 2016
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
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM et al.
Investigative Ophthalmology & Visual Science, 2014
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Zein WM et al.
Investigative Ophthalmology & Visual Science, 2014
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
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.
Williams DS et al.
Investigative Ophthalmology & Visual Science, 2009
[Genetics of Usher syndrome].
Bolz HJ
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2009
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
Ebermann I et al.
Genome Biology, 2007
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF et al.
Journal of Medical Genetics, 2006
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM et al.
Human Genetics, 2005
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
Blaydon DC et al.
Clinical Genetics, 2003
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.
Ouyang XM et al.
Clinical Genetics, 2003
Bardet-Biedl syndrome and Usher syndrome.
Koenig R
Developments in Ophthalmology, 2003
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
Ouyang XM et al.
Human Genetics, 2002
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
Ahmed ZM et al.
Human Genetics, 2002
The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
Savas S et al.
Human Genetics, 2002
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
Zwaenepoel I et al.
Human Mutation, 2001
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
Verpy E et al.
Nature Genetics, 2000
Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.
Elander J et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0