Associated Papers
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC et al.
The British Journal of Ophthalmology, 2023
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.
Milibari D et al.
Clinics and Practice, 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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA et al.
European Journal of Human Genetics : Ejhg, 2020
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Whelan L et al.
Genes, 2020
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene.
Sim PY et al.
Bmj Case Reports, 2018
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
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
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