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
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
Recent preclinical and clinical advances in gene therapy for hereditary hearing loss.
Jang SH et al.
Molecules and Cells, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
Current approaches for Usher syndrome disease models and developing therapies.
Leith FK et al.
Frontiers in Cell and Developmental Biology, 2025
Advances in cochlear gene therapies.
Klimara MJ et al.
Current Opinion in Pediatrics, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides.
Feng P et al.
Molecular Therapy. Nucleic Acids, 2022
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C et al.
International Journal of Molecular Sciences, 2021
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
de Joya EM 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
Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice.
Lentz JJ et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
Fetal gene therapy and pharmacotherapy to treat congenital hearing loss and vestibular dysfunction.
Hastings ML et al.
Hearing Research, 2020
Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges.
Askew C et al.
Hearing Research, 2020
Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction.
Wang L et al.
Nucleic Acids Research, 2020
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB et al.
Cells, 2020
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang T et al.
Advances in Experimental Medicine and Biology, 2019
Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A.
Slijkerman R et al.
Zebrafish, 2018
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice.
Donaldson TN et al.
Behavioural Brain Research, 2018
Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment.
Ponnath A et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2018
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.
Trouillet A et al.
Scientific Reports, 2018
Gene Therapy in Mouse Models of Deafness and Balance Dysfunction.
Wang L et al.
Frontiers in Molecular Neuroscience, 2018
Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide.
Vijayakumar S et al.
Human Molecular Genetics, 2017
Cilia - The sensory antennae in the eye.
May-Simera H et al.
Progress in Retinal and Eye Research, 2017
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.
Pan B et al.
Nature Biotechnology, 2017
Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
Umrigar A et al.
Sage Open Medical Case Reports, 2017
Gene and cell-based therapies for inherited retinal disorders: An update.
Sengillo JD et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.
Gerard X et al.
Advances in Experimental Medicine and Biology, 2016
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM et al.
Investigative Ophthalmology & Visual Science, 2014
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Zein WM et al.
Investigative Ophthalmology & Visual Science, 2014
The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.
El-Amraoui A et al.
Comptes Rendus Biologies, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Usher protein functions in hair cells and photoreceptors.
Cosgrove D et al.
The International Journal of Biochemistry & Cell Biology, 2014
Rescue from hearing loss in Usher's syndrome.
Avraham KB
The New England Journal of Medicine, 2013
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.
Lentz JJ et al.
Nature Medicine, 2013
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function.
Phillips JB et al.
Disease Models & Mechanisms, 2011
Clinical utility gene card for: Usher syndrome.
Bolz HJ et al.
European Journal of Human Genetics : Ejhg, 2011
An update on the genetics of usher syndrome.
Millán JM et al.
Journal of Ophthalmology, 2011
Usher syndrome: hearing loss with vision loss.
Friedman TB et al.
Advances in Oto-rhino-laryngology, 2011
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Kimberling WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse.
Tian C et al.
Brain Research, 2010
Deafness and retinal degeneration in a novel USH1C knock-in mouse model.
Lentz JJ et al.
Developmental Neurobiology, 2010
[Genetics of Usher syndrome].
Bolz HJ
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2009
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
Ebermann I et al.
European Journal of Human Genetics : Ejhg, 2009
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