Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Neena B. Haider, Samuel G. Jacobson, Artur V. Cideciyan, +15

Nature Genetics

Ocular DiseaseDevelopmental BiologySignal TransductionOphthalmologyRetina +8

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore, +8

Ophthalmology

Consecutive FamiliesMolecular InvestigationRetinaOcular DiseaseOphthalmology +7

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

Val C. Sheffield, Edwin M. Stone, Wallace L.M. Alward, +4

Nature Genetics

Developmental BiologyGenetic DisorderGeneticsGenetic EpidemiologyLinkage Analysis +4

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Kirk Mykytyn, Darryl Nishimura, Charles Searby, +17

Nature Genetics

ObesityMetabolic SyndromeBody CompositionAutoimmune DiseaseMetabolic Disorder +11

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13

Edwin M. Stone, Brian E. Nichols, Luan M. Streb, +2

Nature Genetics

Ocular DiseaseOphthalmologyGenetic DisorderGeneticsVitelliform Macular Degeneration +5

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

Budd A. Tucker, Robert F. Mullins, Luan M. Streb, +7

eLife

Induced Pluripotent Stem CellInner LayerSignal TransductionDevelopmental BiologyOphthalmology +11

Three autosomal dominant corneal dystrophies map to chromosome 5q

Edwin M. Stone, William D. Mathers, George O. D. Rosenwasser, +11

Nature Genetics

Mendelian DisorderOphthalmologyCorneal DystrophyGenetic DisorderGenetics +2

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

Kent W. Small, Adam P. DeLuca, S. Scott Whitmore, +17

Ophthalmology

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes

Robert F. Mullins, Aaron D. Dewald, Luan M. Streb, +3

Experimental Eye Research

InflammationComplement SystemAutoimmune DiseaseHuman ChoroidGenetic Epidemiology +7

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

Elise Héon, Bhavna P. Sheth, Jeffrey W. Kalenak, +6

Human Molecular Genetics