Retinitis Pigmentosa withEYSMutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients

(2014) Yang Zhao et al.   JOURNAL OF HUMAN GENETICS

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

(2014) Maiko Narahara et al.   PLoS One

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

chaoptin, prominin, eyes shut and crumbs form a genetic network controlling the apical compartment of Drosophila photoreceptor cells

(2014) N. Gurudev et al.   Biology Open

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

(2013) Tobias Eisenberger et al.   PLoS One

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

(2012) Morag E Shanks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

Recommendations for Genetic Testing of Inherited Eye Diseases

(2012) Edwin M. Stone et al.   OPHTHALMOLOGY

Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

(2012) Katsuhiro Hosono et al.   PLoS One

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

(2012) Koji M. Nishiguchi et al.   PLoS One

Mutation Screening of theGUCA1BGene in Patients with Autosomal Dominant Cone and Cone Rod Dystrophy

(2011) Veronique B. D. Kitiratschky et al.   OPHTHALMIC GENETICS

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

(2010) Isabel Barragán et al.   HUMAN MUTATION

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Natural History of Phenotypic Changes in Stargardt Macular Dystrophy

(2009) Saloni Walia et al.   OPHTHALMIC GENETICS

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

(2008) Mai M Abd El-Aziz et al.   NATURE GENETICS