Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

(2012) May Al-Rashed et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

(2012) Frauke Coppieters et al.   GENETICS IN MEDICINE

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

(2012) Pei-Wen Chiang et al.   NATURE GENETICS

Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis

(2012) Almudena Avila-Fernandez et al.   OPHTHALMOLOGY

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

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

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

(2012) Qin Liu et al.   PLoS One

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

(2012) Danilo Licastro et al.   PLoS One

Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa

(2011) Stephan Züchner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

(2011) Xia Wang et al.   HUMAN MUTATION

Exome Sequencing Identifies ZNF644 Mutations in High Myopia

(2011) Yi Shi et al.   PLoS Genetics

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa

(2010) Graeme Richard Clark et al.   OPHTHALMOLOGY

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

(2010) Carmen Ayuso et al.   Genome Medicine

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE