Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 666 citations

Medicine, Genetics, Molecular Genetics +10

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 447 citations

Life Sciences, Genetics, Molecular Genetics +10

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

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, S. Gerber et al. · Human Mutation · 2004 · 349 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan et al. · Nature Genetics · 2000 · 290 citations · Full text

Medicine, Genetics, Molecular Genetics +8