The genetic aetiology of retinal degeneration in children in Finland – new founder mutations identified

Toward an elucidation of the molecular genetics of inherited retinal degenerations

(2017) G. Jane Farrar et al.   HUMAN MOLECULAR GENETICS

Molecular findings from 537 individuals with inherited retinal disease

(2016) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

(2015) Xue Chen et al.   Scientific Reports

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations

(2014) C.O. Pierrottet et al.   GENETICS AND MOLECULAR RESEARCH

TheRPGRIP1-related retinal phenotype in children

(2013) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Phenotypic and genetic spectrum of Danish patients withABCA4-related retinopathy

(2012) Morten Duno et al.   OPHTHALMIC GENETICS

Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype

(2010) Karin W. Littink et al.   OPHTHALMOLOGY

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography

(2008) M Hajali et al.   BRITISH JOURNAL OF OPHTHALMOLOGY