EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

(2017) Lonneke Haer-Wigman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

(2017) Zhaojing Lu et al.   Scientific Reports

CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling

(2016) Jiaqi Liu et al.   HUMAN GENETICS

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease

(2016) Riccardo Sangermano et al.   OPHTHALMOLOGY

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

(2016) Miao Yu et al.   Biology Open

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population

(2016) Yanan Di et al.   Scientific Reports

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

(2016) Raquel Perez-Carro et al.   Scientific Reports

Identifying mutations in Tunisian families with retinal dystrophy

(2016) Imen Habibi et al.   Scientific Reports

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

(2015) Chang-Ki Yoon et al.   BMC GENOMICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies

(2015) Ralph W.N. Slijkerman et al.   PROGRESS IN RETINAL AND EYE RESEARCH

NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa

(2015) Zhongqi Ge et al.   Scientific Reports

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

(2015) Xue Chen et al.   Scientific Reports

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

(2015) Yuuki Arai et al.   Journal of Ophthalmology

Autosomal recessive cone–rod dystrophy associated with compound heterozygous mutations in the EYS gene

(2014) Satoshi Katagiri et al.   DOCUMENTA OPHTHALMOLOGICA

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

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

(2014) Xiu-Feng Huang et al.   GENETICS IN MEDICINE

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible and more sensitive for variant detection, than exome sequencing

(2014) Mark B. Consugar et al.   GENETICS IN MEDICINE

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations

(2014) Vera L. Bonilha et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

(2014) Yan Xu et al.   HUMAN GENETICS

CRISPR-Cas systems for editing, regulating and targeting genomes

(2014) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Stem Cells as Tools for Studying the Genetics of Inherited Retinal Degenerations

(2014) L. A. Wiley et al.   Cold Spring Harbor Perspectives in Medicine

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in theEYSGene

(2013) Kimiko Suto et al.   OPHTHALMIC 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

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

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

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

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

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

(2011) María González-del Pozo et al.   PLoS One

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

(2010) Yukan Huang et al.   BMC Medical Genetics

EYS is a major gene for rod-cone dystrophies in France

(2010) Isabelle Audo et al.   HUMAN MUTATION

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

(2010) Isabel Barragán et al.   HUMAN MUTATION

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

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

(2008) Rob W.J. Collin et al.   AMERICAN JOURNAL OF HUMAN 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