Associated Papers
Mutations in AGBL5 associated with Retinitis pigmentosa.
Paredes DI et al.
Ophthalmic Genetics, 2024
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
Yan N et al.
Bmc Medical Genetics, 2019
30890130 (PubMed )
Supplement: 12881_2019_780_MOESM2_ESM.xlsx › Sheet1
Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
Xiao X et al.
Molecular Vision, 2019
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T et al.
The Journal of Experimental Medicine, 2017
28747427 (PubMed )
Supplement: JEM_20161810_sm.pdf
Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
Di Y et al.
Scientific Reports, 2016
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
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
EYS is a major gene for rod-cone dystrophies in France.
Audo I et al.
Human Mutation, 2010
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