Kimberlie Vandenburgh
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, melanin and skin pigmentation, Antioxidant Activity and Oxidative Stress, Retinal Imaging and Analysis
Most-Cited Works
- → A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy(1999)492 cited
- → Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene(1993)278 cited
- → Night blindness in Sorsby's fundus dystrophy reversed by vitamin A(1995)220 cited
- An analysis of allelic variation in the ABCA4 gene.(2001)
- → Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration(1998)198 cited
- → A 2 base bair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea(1993)75 cited
- → A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea(1993)59 cited
- → Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)(1995)43 cited
- → Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa(1994)29 cited
- → Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)(1995)26 cited