Associated Papers
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 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
Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.
D'Esposito F et al.
Genes, 2025
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.
Elasal MA et al.
Genes, 2024
A rare transcript homozygous variants in CLRN1(USH3A) causes Usher syndrome type 3 in a Chinese family.
Wang S et al.
Orphanet Journal of Rare Diseases, 2024
Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.
Tom WA et al.
International Journal of Molecular Sciences, 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
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mendia C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
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 Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 2022
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
Marouf A et al.
Human Genetics, 2022
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III.
Geng R et al.
Scientific Reports, 2017
Impairment of Vision in a Mouse Model of Usher Syndrome Type III.
Tian G et al.
Investigative Ophthalmology & Visual Science, 2016
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
Gopal SR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H et al.
Acta Ophthalmologica, 2013
Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.
Pietola L et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2012
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Clinical utility gene card for: Usher syndrome.
Bolz HJ et al.
European Journal of Human Genetics : Ejhg, 2011
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI et al.
Ophthalmology, 2011
Usher syndrome: hearing loss with vision loss.
Friedman TB et al.
Advances in Oto-rhino-laryngology, 2011
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision, 2009
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.
Geng R et al.
Human Molecular Genetics, 2009
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.
Geller SF et al.
Plos Genetics, 2009
[Genetics of Usher syndrome].
Bolz HJ
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2009
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
Baux D et al.
Human Mutation, 2008
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B et al.
Human Mutation, 2008
The changing face of Usher syndrome: clinical implications.
Cohen M et al.
International Journal of Audiology, 2007
Visual impairment in Finnish Usher syndrome type III.
Plantinga RF et al.
Acta Ophthalmologica Scandinavica, 2006
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
Sadeghi M et al.
International Journal of Audiology, 2005
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
Aller E et al.
Clinical Genetics, 2004
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
Fields RR et al.
American Journal of Human Genetics, 2002
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A et al.
European Journal of Human Genetics : Ejhg, 2002
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
Toms M et al.
Therapeutic Advances in Ophthalmology, 0