Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Romo-Aguas JC et al.
Investigative Ophthalmology & Visual Science, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O et al.
International Journal of Molecular Sciences, 2022
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Bahena P et al.
Human Genetics, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI et al.
Genes, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Subirà O et al.
Eye (london, England), 2020
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C et al.
Molecular Genetics & Genomic Medicine, 2017
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Lenassi E et al.
Ophthalmology, 2014
Structures of usher syndrome 1 proteins and their complexes.
Pan L et al.
Physiology (bethesda, Md.), 2012
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
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Four-year follow-up of diagnostic service in USH1 patients.
Roux AF et al.
Investigative Ophthalmology & Visual Science, 2011
Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.
Wu L et al.
Science (new York, N.y.), 2011
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF et al.
Journal of Medical Genetics, 2006
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA et al.
Ear and Hearing, 0