Jacqueline T. Hecht

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

Brendan Lee, Kannan Thirunavukkarasu, Lei Zhou et al. · Nature Genetics · 1997 · 569 citations

Cleidocranial Dysplasia, Missense Mutations, Dna Binding +9

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 482 citations

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith et al. · Nature Genetics · 1995 · 475 citations

Recurrent Mutation, Signal Transduction, Bone Morphogenic Protein +8

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Jacqueline T. Hecht, Laura D. Nelson, Eric Crowder et al. · Nature Genetics · 1995 · 399 citations

Cartilage Degeneration, Molecular Biology, Pathology +9

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Dominique Stickens, Gregory A. Clines, David G. Burbee et al. · Nature Genetics · 1996 · 339 citations

Tumor Biology, Ext2 Multiple, Genetics +8