Neil D. Ebenezer

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 329 citations · Full text

Chromatin, Transcriptional Regulation, Genetics +10

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)

Eranga N. Vithana, Patricio E. Morgan, Periasamy Sundaresan et al. · Nature Genetics · 2006 · 292 citations

Genetic Disorder, Genetics, Physiology +5

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan et al. · The American Journal of Human Genetics · 2000 · 148 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

Tin Aung, Louise Ocaka, Neil D. Ebenezer et al. · Human Genetics · 2001 · 139 citations

Opa1 Gene, Ocular Disease, Ophthalmology +7

Linkage of congenital hereditary endothelial dystrophy to chromosome 20

Naoki Toma, Neil D. Ebenezer, Chris F. Inglehearn et al. · Human Molecular Genetics · 1995 · 134 citations