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 · 519 citations

Medicine, Genetics, Molecular Genetics +13

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

Lap‐Chee Tsui, Manuel Buchwald, David Barker et al. · Science · 1985 · 494 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +11

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 · 319 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 257 citations

Medicine, Genetics, Molecular Genetics +15