Lori S. Sullivan

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Melanie M. Sohocki, Stephen P. Daiger, Sara J. Bowne et al. · Human Mutation · 2000 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan et al. · Nature Genetics · 2000 · 290 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 287 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene

Melanie M. Sohocki, Lori S. Sullivan, Helen A. Mintz-Hittner et al. · The American Journal of Human Genetics · 1998 · 283 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 242 citations

Medicine, Genetics, Molecular Genetics +16