Kimberlie Vandenburgh

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M. Stone, Andrew Lotery, Francis L. Munier et al. · Nature Genetics · 1999 · 491 citations

Ocular Disease, Retinal Dystrophy, Ophthalmology +8

Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

Brian E. Nichols, Val C. Sheffield, Kimberlie Vandenburgh et al. · Nature Genetics · 1993 · 278 citations

Biology, Codon 167, Rds Gene +8

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

Samuel G. Jacobson, Artur V. Cideciyan, G. Regunath et al. · Nature Genetics · 1995 · 218 citations

Ocular Disease, Night Blindness, Ophthalmology +4

An analysis of allelic variation in the ABCA4 gene.

Andrew R. Webster, Elise Héon, Andrew Lotery et al. · PubMed · 2001 · 199 citations

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

B.E. Nichols, Arlene V. Drack, Kimberlie Vandenburgh et al. · Human Molecular Genetics · 1993 · 58 citations · Full text

Biology, Developmental Biology, Base Pair Deletion +9