Robert G. Knowlton

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Michael D. Briggs, Susan M.G. Hoffman, Lily King et al. · Nature Genetics · 1995 · 517 citations

Musculoskeletal Research, Genetics, Cartilage Degeneration +9

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

Lap‐Chee Tsui, Manuel Buchwald, David Barker et al. · Science · 1985 · 493 citations

A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7

Robert G. Knowlton, Odile Cohen‐Haguenauer, N. Van Cong et al. · Nature · 1985 · 332 citations

Chromatin, Cytogenetics, Medicine +9

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

N N Ahmad, Leena Ala‐Kokko, Robert G. Knowlton et al. · Proceedings of the National Academy of Sciences · 1991 · 318 citations · Full text

Immunodeficiencies, Genetics, Type Ii Collagen +18

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Alan D. Irvine, Laura D. Corden, Ole Swensson et al. · Nature Genetics · 1997 · 254 citations

Ocular Disease, Ophthalmology, Corneal Dystrophy +6