Associated Papers
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.
Chin JJ et al.
Human Genetics, 2025
41020988 (PubMed )
Supplement: 439_2025_2782_MOESM1_ESM.xlsx › MORL-7
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
36110214 (PubMed )
Supplement: Table1.XLSX › 768_distinct_USH2A_variants
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z et al.
Bmc Medical Genomics, 2021
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
Huang L et al.
Eye (london, England), 2018
29899460 (PubMed )
Supplement: 41433_2018_130_MOESM1_ESM.xlsx › USH2A_variants_all
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H et al.
American Journal of Human Genetics, 2011
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H et al.
Clinical Genetics, 2009
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