Clair A. Francomano

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2K citations

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +8

The 2017 international classification of the Ehlers–Danlos syndromes

Fransiska Malfait, Clair A. Francomano, Peter H. Byers et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2017 · 1.8K citations · Full text

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

William F. Schwindinger, Clair A. Francomano, Michael A. Levine · Proceedings of the National Academy of Sciences · 1992 · 496 citations · Full text

Adenylyl Cyclase, Genetics, Molecular Biology +18

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