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

Identification of a Gene That Causes Primary Open Angle Glaucoma

Edwin M. Stone, John H. Fingert, Wallace L.M. Alward et al. · Science · 1997 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +14

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

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Tom Glaser, Lisa I. Jepeal, Janice G. Edwards et al. · Nature Genetics · 1994 · 708 citations

Medicine, Genetics, Ophthalmology +16

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

I. Stoilov · Human Molecular Genetics · 1997 · 648 citations

Life Sciences, Genetics, Ophthalmology +17

Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

John H. Fingert, Elise Héon, J. M. Liebmann et al. · Human Molecular Genetics · 1999 · 552 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15