A Novel PITX2 Mutation and a Polymorphism in a 5-Generation Family with Axenfeld–Rieger Anomaly and Coexisting Fuchs’ Endothelial Dystrophy

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

Elena V. Semina, Rebecca S. Reiter, Nancy J. Leysens et al. · Nature Genetics · 1996 · 890 citations

Life Sciences, Genetics, Molecular Genetics +7

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward et al. · Nature Genetics · 1998 · 472 citations

Life Sciences, Genetics, Molecular Genetics +10

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

Susmito Biswas · Human Molecular Genetics · 2001 · 397 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly

Alan J. Mears, Tim Jordan, Farideh Mirzayans et al. · The American Journal of Human Genetics · 1998 · 328 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye

Darryl Nishimura, Charles Searby, Wallace L.M. Alward et al. · The American Journal of Human Genetics · 2001 · 215 citations · Full text

Medicine, Developmental Biology, Genetics +17