Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

Medicine, Biomedical Engineering, Clinical Vision Science +4

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

Medicine, Genetics, Molecular Genetics +12

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

Gabriel H. Travis, Miles B. Brennan, Patria E. Danielson et al. · Nature · 1989 · 399 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +14

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

Andreas Marquardt · Human Molecular Genetics · 1998 · 358 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Rosemary Burgess, I. D. Millar, Bart P. Leroy et al. · The American Journal of Human Genetics · 2008 · 313 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14