Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2025
Syndromic retinitis pigmentosa.
Karuntu JS et al.
Progress in Retinal and Eye Research, 2025
Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.
Rezaie N et al.
Molecular Biology Reports, 2024
Next-generation sequencing for genetic testing of hearing loss populations.
Wang L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH et al.
Ophthalmic Genetics, 2023
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P et al.
Indian Journal of Ophthalmology, 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
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.
Batissoco AC et al.
Human Genetics, 2022
A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.
Guo Y et al.
Translational Pediatrics, 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
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie L et al.
European Journal of Human Genetics : Ejhg, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Nishio SY et al.
Human Mutation, 2017
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Hartel BP et al.
Hearing Research, 2016
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
Bernal S et al.
Clinical Genetics, 2005
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings RJ et al.
Human Mutation, 2004
Mutational spectrum in Usher syndrome type II.
Ouyang XM et al.
Clinical Genetics, 2004
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
Pennings RJ et al.
Acta Ophthalmologica Scandinavica, 2004
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD et al.
American Journal of Human Genetics, 2000