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 · 665 citations

Medicine, Genetics, Molecular Genetics +16

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 · 504 citations

Life Sciences, Genetics, Molecular Genetics +12

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 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 326 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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 · 185 citations

Medicine, Genetics, Molecular Genetics +14