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 · 457 citations

Medicine, Genetics, Molecular Genetics +12

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 · 248 citations · Full text

Medicine, Genetics, Ophthalmology +17

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 · 226 citations · Full text

Medicine, Molecular Genetics, Ophthalmology +14

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

Life Sciences, Genetics, Molecular Genetics +10

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 · 189 citations

Medicine, Genetics, Molecular Genetics +13