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Investigative Ophthalmology & Visual Science|January 1, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder PopulationRazek Georges Coussa, Christina Chakarova, Radwan Ajlan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2014
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsJacques Zaneveld, Sorath Siddiqui, Huajin Li, et al.
Investigative Ophthalmology & Visual Science|May 11, 2013
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosaQing Fu, Feng Wang, Hui Wang, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane AbnormalitiesAlice Yang Zhang, Naveen Mysore, Hojatollah Vali, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Journal of Medical Genetics|July 13, 2013
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencingXia Wang, Hui Wang, Vincent Sun, et al.
Investigative Ophthalmology & Visual Science|September 6, 2014
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosaLori S Sullivan, Daniel C Koboldt, Sara J Bowne, et al.
American Journal of Human Genetics|February 14, 2012
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindnessNeal S Peachey, Thomas A Ray, Ralph Florijn, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Plos One|January 12, 2013
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotypeIsabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, et al.
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