John Chiang

Residual Foveal Cone Structure in <i>CNGB3</i>-Associated Achromatopsia

Christopher S. Langlo, Emily J Patterson, Brian P. Higgins et al. · Investigative Ophthalmology & Visual Science · 2016 · 110 citations · Full text

Health Professions, Ophthalmology, Vision Science +17

Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8

Kaoru Fujinami, Rupert W. Strauß, John Chiang et al. · British Journal of Ophthalmology · 2018 · 73 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

A Novel<i>KCNJ13</i>Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)

Bikash R. Pattnaik, Pawan K. Shahi, Meghan J. Marino et al. · Human Mutation · 2015 · 58 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of <i>ABCA4</i>

Ana Fakin, Anthony G. Robson, Kaoru Fujinami et al. · Investigative Ophthalmology & Visual Science · 2016 · 51 citations · Full text

Medicine, Genetics, Ophthalmology +17

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock et al. · Journal of Lipid Research · 2013 · 49 citations · Full text

Medicine, Pediatrics, Clinical Biochemistry +13