Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Gene discovery and prevalence in inherited retinal dystrophies

(2014) Christian P. Hamel   COMPTES RENDUS BIOLOGIES

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

(2014) Robert E MacLaren et al.   LANCET

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial

(2014) Robert K Koenekoop et al.   LANCET

Prevalence of Generalized Retinal Dystrophy in Denmark

(2014) Mette Bertelsen et al.   OPHTHALMIC EPIDEMIOLOGY

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheRPGRIP1-related retinal phenotype in children

(2013) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

(2013) Terry A. Braun et al.   HUMAN MOLECULAR GENETICS

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

(2013) Mette Bertelsen et al.   OPHTHALMIC EPIDEMIOLOGY

Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients

(2013) Anshuman Verma et al.   PLoS One

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

CRB1mutations in inherited retinal dystrophies

(2011) Kinga Bujakowska et al.   HUMAN MUTATION

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

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH