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 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

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 · 345 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

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 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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 · 215 citations

Medicine, Genetics, Ophthalmology +12

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

Medicine, Genetics, Molecular Genetics +8