Radha Ayyagari

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Kang Zhang, Marina Kniazeva, Min Han et al. · Nature Genetics · 2001 · 451 citations

Ocular Disease, Ophthalmology, Degenerative Diseases +7

Loss of functional ELOVL4 depletes very long-chain fatty acids (≥C28) and the unique ω-O-acylceramides in skin leading to neonatal death

Vidyullatha Vasireddy, Yoshikazu Uchida, Norman Salem et al. · Human Molecular Genetics · 2007 · 247 citations · Full text

Knockout Mouse, Long-chain Fatty Acids, Photoreceptor Cell +13

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Charles M. Krafchak, Hemant Pawar, Sayoko E. Moroi et al. · The American Journal of Human Genetics · 2005 · 225 citations · Full text

Ocular Disease, Ophthalmology, Corneal Dystrophy +8

Localization of two genes for usher syndrome type I to chromosome 11

Richard J. Smith, E.C. Lee, William J. Kimberling et al. · Genomics · 1992 · 221 citations

Usher Syndrome Type, Genetic Disorder, Genetics +6

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Carrie M Louie, Gianluca Caridi, Vanda S. Lopes et al. · Nature Genetics · 2010 · 188 citations · Full text

Biology, Ocular Disease, Retina +9