Clair A. Francomano

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

Patricia L. Tavormina, Gary A. Bellus, Melanie K. Webster et al. · The American Journal of Human Genetics · 1999 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

Robert A. Montgomery, Michael T. Geraghty, Evelyn Bull et al. · The American Journal of Human Genetics · 1998 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

Nicola C. Ho, Clair A. Francomano, Margot Van Allen · American Journal of Medical Genetics · 2000 · 59 citations · Full text

Medicine, Genetics, Pediatrics +17

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

Ialn Mcintosh, Margaret H. Abbott, Matthew L. Warman et al. · Human Molecular Genetics · 1994 · 53 citations

Life Sciences, Genetics, Molecular Genetics +10

Localization of the Gene (SYM1) for Proximal Symphalangism to Human Chromosome 17q21-q22

Mihael H. Polymeropoulos, Jamie Poush, Jeffrey R. Rubenstein et al. · Genomics · 1995 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17