Associated Papers
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
39560289 (PubMed )
Supplement: LARY-135-1777-s002.pdf
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
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM et al.
Investigative Ophthalmology & Visual Science, 2014
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
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
Select a paper to view details