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

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

(2012) Alejandro Estrada-Cuzcano et al.   ARCHIVES OF OPHTHALMOLOGY

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

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

(2011) Sara J Bowne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Xia Wang et al.   HUMAN MUTATION

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

(2011) Paola Benaglio 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

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

(2010) Michal Mokry et al.   NUCLEIC ACIDS RESEARCH

Protracted course of juvenile ceroid lipofuscinosis associated with a novelCLN3mutation (p.Y199X)

(2009) A Sarpong et al.   CLINICAL GENETICS