Associated Papers
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Syndromic retinitis pigmentosa.
Karuntu JS et al.
Progress in Retinal and Eye Research, 2025
Founder Variants in the Mexican Population: A Systematic Review.
Harari-Arakindji S et al.
Archives of Medical Research, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.
Colbert BM et al.
The Laryngoscope, 2025
A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.
Redfield SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
McDonald A et al.
International Journal of Molecular Sciences, 2024
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C et al.
Hgg Advances, 2023
USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.
Nguyen VP et al.
Translational Vision Science & Technology, 2023
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM et al.
Genes, 2022
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Meunier A et al.
Ophthalmic Genetics, 2022
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Stemerdink M et al.
Human Genetics, 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Dulla K et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2021
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN et al.
Bmc Ophthalmology, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
USH2A-retinopathy: From genetics to therapeutics.
Toualbi L et al.
Experimental Eye Research, 2020
Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.
Xue K et al.
Expert Opinion on Investigational Drugs, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M et al.
Human Molecular Genetics, 2020
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases.
Pendse ND 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
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME et al.
Ophthalmic Genetics, 2018
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M et al.
Experimental Eye Research, 2018
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 2017
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Sengillo JD et al.
Scientific Reports, 2017
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Testa F et al.
Retina (philadelphia, Pa.), 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW et al.
Molecular Therapy. Nucleic Acids, 2016
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
Lenarduzzi S et al.
Hearing Research, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 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
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Zhao Y et al.
Journal of Human Genetics, 2014
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
Licastro D et al.
Plos One, 2012
Genetic analysis for two italian siblings with usher syndrome and schizophrenia.
Domanico D et al.
Case Reports in Ophthalmological Medicine, 2012
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G et al.
Orphanet Journal of Rare Diseases, 2011
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
Nakanishi H et al.
Journal of Human Genetics, 2011
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
Xu W et al.
Molecular Vision, 2011
Molecular epidemiology of Usher syndrome in Italy.
Vozzi D et al.
Molecular Vision, 2011
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010