Carolyn Cai

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

Marin L. Gantner, Kevin Eade, Martina Wallace et al. · New England Journal of Medicine · 2019 · 243 citations · Full text

Genome-wide analyses identify common variants associated with macular telangiectasia type 2

Thomas Scerri, Anna Quaglieri, Carolyn Cai et al. · Nature Genetics · 2017 · 135 citations · Full text

Ocular Disease, Ophthalmology, Genetic Disorder +10

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease

Kevin Eade, Marin L. Gantner, Joseph Hostyk et al. · Nature Metabolism · 2021 · 57 citations · Full text

Ocular Disease, Retina, Ophthalmology +9

Genetic and Clinical Analysis of <i> <scp>ABCA</scp> 4 </i> ‐Associated Disease in African American Patients

Jana Zernant, Frederick T. Collison, Winston Lee et al. · Human Mutation · 2014 · 48 citations · Full text

Abca4 Variation, Immunodeficiencies, Genetics +21

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Ya‐Jing Xie, Winston Lee, Carolyn Cai et al. · Human Molecular Genetics · 2014 · 39 citations · Full text

Ocular Disease, Brain Development, Genetics +24