Stephen P. Daiger

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A&gt;T, in<i>PRPH2</i>and Protein Haplotypes in<i>trans</i>as Modifiers

Founder Effect of a c.828+3A&gt;T Splice Site Mutation in Peripherin 2 (<i>PRPH2</i>) Causing Autosomal Dominant Retinal Dystrophies

A Dominant Mutation in Hexokinase 1 (<i>HK1</i>) Causes Retinitis Pigmentosa

Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP)

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

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

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