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

Nursing, Patient-oriented Research, Central Challenges +15

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 · 605 citations

Thanatophoric Dysplasia, Fibrosis, Mendelian Disorder +8

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 · 517 citations

Musculoskeletal Research, Genetics, Cartilage Degeneration +9

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

Medicine, Glycobiology, Pathology +4

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Yaoqin Gong, Deborah Krakow, José Roberto Marcelino et al. · Nature Genetics · 1999 · 346 citations

Developmental Biology, Genetic Disorder, Developmental Genetics +7