Associated Papers
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing.
Sather R et al.
International Journal of Molecular Sciences, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM et al.
Genes, 2022
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L et al.
International Journal of Molecular Sciences, 2021
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Reurink J et al.
International Journal of Molecular Sciences, 2021
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA et al.
Ophthalmic Genetics, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J et al.
Genes, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E et al.
European Journal of Human Genetics : Ejhg, 2015
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Lee K et al.
American Journal of Ophthalmology, 2015
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Baux D et al.
Human Mutation, 2014
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012