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

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

(2014) Yan Xu et al.   HUMAN GENETICS

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

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

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

(2013) Xia Wang et al.   JOURNAL OF MEDICAL GENETICS

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

(2013) Xiu-Feng Huang et al.   PLoS One

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 genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa

(2012) Cinoo Kim et al.   OPHTHALMIC GENETICS

Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

(2011) Byung-Joo Min et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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 molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

(2009) James S. Friedman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

(2008) Thomas Rio Frio et al.   JOURNAL OF CLINICAL INVESTIGATION