David L. Rimoin

Central Challenges Facing the National Clinical Research Enterprise

Nancy S. Sung, William F. Crowley, Myron Genel et al. · JAMA · 2003 · 1.2K citations

Medicine, Clinical Sciences, Health Policy +14

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson et al. · Nature Genetics · 1995 · 606 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

William S. Sly, Barbara A. Quinton, William H. McAlister et al. · The Journal of Pediatrics · 1973 · 508 citations

Life Sciences, Biochemistry, Pathobiology +9

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Yaoqin Gong, Deborah Krakow, José Roberto Marcelino et al. · Nature Genetics · 1999 · 347 citations

Life Sciences, Genetics, Molecular Genetics +11