John R. Heckenlively

Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa

Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach

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

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Seven new loci associated with age-related macular degeneration

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

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Mutations in the X-Linked Retinitis Pigmentosa Genes<i>RPGR</i>and<i>RP2</i>Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

Mutations in<i>RPGR</i>and<i>RP2</i>Account for 15% of Males with Simplex Retinal Degenerative Disease