Denise M. Sheils

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

Marian M. Humphries, Derrick E. Rancourt, G. Jane Farrar et al. · Nature Genetics · 1997 · 532 citations

Ocular Disease, Signal Transduction, Photoreceptor Cell +10

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

G. Jane Farrar, Paul F. Kenna, Siobhán A. Jordan et al. · Nature · 1991 · 388 citations

Protein Function, Peripherin–rds Gene, Retinitis Pigmentosa +8

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

Peter McWilliam, G. Jane Farrar, Paul F. Kenna et al. · Genomics · 1989 · 244 citations

Chromatin, Chromosome Dynamics, Cytogenetics +10

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

Marian M. Humphries, Denise M. Sheils, G. Jane Farrar et al. · Human Mutation · 1993 · 62 citations

Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

G. Jane Farrar, Paul F. Kenna, Siobhán A. Jordan et al. · Genomics · 1992 · 53 citations

Novel Mutation, Mendelian Disorder, Genetic Disorder +8