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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
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
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.
Maia N et al.
Clinical Case Reports, 2020
[Clinical phenotype and genotype analysis of the family with the Usher syndrome].
Lin C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
Chen S et al.
Genetic Testing and Molecular Biomarkers, 2016
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
Zong L et al.
International Journal of Pediatric Otorhinolaryngology, 2016
Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations.
Sumaroka A et al.
Investigative Ophthalmology & Visual Science, 2016
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
Yoshimura H et al.
Plos One, 2014
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA et al.
Ear and Hearing, 0