Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

ATULP1founder mutation, p.Gln301*, underlies a recognisable congenital rod–cone dystrophy phenotype on the Arabian Peninsula

(2014) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay

(2014) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations

(2014) Arif O. Khan et al.   OPHTHALMIC 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

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

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

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

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH