Associated Papers
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
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
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › CLRN1
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
Melo US et al.
International Journal of Molecular Epidemiology and Genetics, 2014
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Akoury E et al.
Ophthalmic Genetics, 2011
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision, 2009
The changing face of Usher syndrome: clinical implications.
Cohen M et al.
International Journal of Audiology, 2007
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
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
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