Associated Papers
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM et al.
Investigative Ophthalmology & Visual Science, 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
Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.
Gopal SR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
Khan MI et al.
Ophthalmology, 2011
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision, 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
17407589 (PubMed )
Supplement: gb-2007-8-4-r47-S5.pdf
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