Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Tonotopic Specialization of MYO7A Isoforms in Auditory Hair Cells.
Li S et al.
Biorxiv : the Preprint Server for Biology, 2025
A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
Ouarhache M et al.
Molecular Biology Reports, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.
Marwan M et al.
Bmc Ophthalmology, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 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
Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
Wafa TT et al.
Clinical Genetics, 2021
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F et al.
Journal of Clinical Laboratory Analysis, 2020
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S et al.
Retina (philadelphia, Pa.), 2020
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
Abdi S et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Atik T et al.
Plos One, 2015
An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.
van der Velde KJ et al.
Human Mutation, 2013
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I et al.
Molecular Vision, 2010
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Jacobson SG et al.
Human Molecular Genetics, 2008
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