Dianna K. Wheaton

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

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10

The DIAMOND (DHA Intake And Measurement Of Neural Development) Study: a double-masked, randomized controlled clinical trial of the maturation of infant visual acuity as a function of the dietary level of docosahexaenoic acid

Eileen E. Birch, Susan E. Carlson, Dennis R. Hoffman et al. · American Journal of Clinical Nutrition · 2010 · 233 citations · Full text

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

Xia Wang, Hui Wang, Vincent Sun et al. · Journal of Medical Genetics · 2013 · 160 citations · Full text

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 140 citations

Identifies Nmnat1 Mutations, Developmental Biology, Mendelian Disorder +9

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

Kari Branham, Mohammad Othman, Matthew Brumm et al. · Investigative Ophthalmology & Visual Science · 2012 · 126 citations · Full text