Associated Papers
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.
Gao FJ et al.
Eye (london, England), 2022
Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.
Wang Y et al.
Molecular Vision, 2019
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Messchaert M et al.
Human Mutation, 2018
Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.
Gu S et al.
Molecular Vision, 2016
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa.
Chen X et al.
Scientific Reports, 2015
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa].
Rong W et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2014
[Targeted sequencing identifies a hotspot mutation SNRNP200 p.S1087L correlates with novel phenotypes in retinitis pigmentosa].
Chen X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2013
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