Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2025
Systematic empirical evaluation of individual base editing targets: Validating therapeutic targets in USH2A and comparison of methods.
Tachida Y et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy.
Antropoli A et al.
European Journal of Ophthalmology, 2025
Adaptive optics retinal imaging in patients with usher syndrome.
Kempf M et al.
Frontiers in Ophthalmology, 2024
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L et al.
Investigative Ophthalmology & Visual Science, 2023
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J et al.
Hgg Advances, 2023
Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 2022
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L et al.
Ophthalmic Research, 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
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A et al.
International Journal of Molecular Sciences, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.
Falsini B et al.
Diagnostics (basel, Switzerland), 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 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
Prospective exploratory study to assess the safety and efficacy of aflibercept in cystoid macular oedema associated with retinitis pigmentosa.
Strong SA et al.
The British Journal of Ophthalmology, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Screening of the Usher Syndrome in Cuba.
Santana EE et al.
Frontiers in Genetics, 2019
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R et al.
Bmc Medical Genomics, 2018
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study.
Colombo L et al.
Bmc Ophthalmology, 2018
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Zhang Q et al.
Scientific Reports, 2016
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
Lenarduzzi S et al.
Hearing Research, 2015
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
Vona B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Alternative splicing and retinal degeneration.
Liu MM et al.
Clinical Genetics, 2013
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
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
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T et al.
Clinical Genetics, 2011
Molecular epidemiology of Usher syndrome in Italy.
Vozzi D et al.
Molecular Vision, 2011
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA et al.
Investigative Ophthalmology & Visual Science, 2008
Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C et al.
Ophthalmic Genetics, 2005