Eckart Apfelstedt-Sylla

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Andreas Gal, Yun Li, Debra A. Thompson et al. · Nature Genetics · 2000 · 655 citations

Ocular Disease, Retina, Photoreceptor Cell +7

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Tim M. Strom, Gerald Nyakatura, Eckart Apfelstedt-Sylla et al. · Nature Genetics · 1998 · 500 citations

L-type Calcium-channel Gene, Channelopathies, Developmental Biology +6

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born et al. · The American Journal of Human Genetics · 2001 · 361 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +10

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Debra A. Thompson, Yun Li, Christina L. McHenry et al. · Nature Genetics · 2001 · 183 citations

Ocular Disease, Retina, Mendelian Disorder +8