Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos

(2018) N. Patel et al.   CLINICAL GENETICS

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

(2018) Marina França Dias et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

(2018) Johannes Birtel et al.   Scientific Reports

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

(2017) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

(2017) Arif O. Khan et al.   Scientific Reports

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

(2016) Nicole Weisschuh et al.   PLoS One

Expanding the clinical, allelic and locus heterogeneity of retinal dystrophies

(2015) Nisha Patel et al.   GENETICS IN MEDICINE

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

(2015) Elise Boulanger-Scemama et al.   Orphanet Journal of Rare Diseases

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

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

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

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