A. Blankenagel

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

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider et al. · The American Journal of Human Genetics · 2000 · 343 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol et al. · The American Journal of Human Genetics · 1999 · 259 citations · Full text

Mendelian Disorder, Genetic Disorder, Abcr Gene +10

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Franziska Krämer, Karen L. White, Daniel Pauleikhoff et al. · European Journal of Human Genetics · 2000 · 214 citations · Full text

Ocular Disease, Mendelian Disorder, Ophthalmology +9

Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease

S. Gerber, Jean‐Michel Rozet, T.J.R. van de Pol et al. · Genomics · 1998 · 78 citations

Complete Exon–intron Structure, Natural Sciences, Molecular Biology +6