Daniel H. Cohn

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis

Jarmo K�rkk�, Daniel H. Cohn, Leena Ala-Kokko et al. · American Journal of Medical Genetics · 2000 · 70 citations

Life Sciences, Genetics, Molecular Genetics +13

Correlation of linkage data with phenotype in eight families with Stickler syndrome

Douglas J. Wilkin, Geert Mortier, Carey L. Johnson et al. · American Journal of Medical Genetics · 1998 · 54 citations

Life Sciences, Genetics, Molecular Genetics +10

Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22

Deborah Krakow, Kent A. Reinker, Berkley R. Powell et al. · The American Journal of Human Genetics · 1998 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

David L. Rimoin, I. Merete Rasmussen, Michael D. Briggs et al. · Human Genetics · 1994 · 40 citations

Medicine, Genetics, Molecular Genetics +16

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

John Loughlin, Catherine Irven, Zehra Mustafa et al. · Human Mutation · 1998 · 39 citations

Medicine, Genetics, Molecular Genetics +11