Julia E. Richards

Cloning Human Fetal γ Globin and Mouse α-Type Globin DNA: Preparation and Screening of Shotgun Collections

Frederick R. Blattner, Ann E. Blechl, Katherine Denniston-Thompson et al. · Science · 1978 · 349 citations

Life Sciences, Genetics, Molecular Biology +17

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Debra A. Thompson, P Gyürüs, L L Fleischer et al. · PubMed · 2000 · 254 citations

Medicine, Genetics, Molecular Genetics +17

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Pirro G. Hysi, Ching‐Yu Cheng, Henriët Springelkamp et al. · Nature Genetics · 2014 · 249 citations · Full text

Life Sciences, Genetics, Ophthalmology +10

Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells

Charles M. Krafchak, Hemant Pawar, Sayoko E. Moroi et al. · The American Journal of Human Genetics · 2005 · 226 citations · Full text

Medicine, Molecular Genetics, Ophthalmology +14

Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella Syndrome

D. Vollrath, Virna L. Jaramillo-Babb, Mark V. Clough et al. · Human Molecular Genetics · 1998 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17