Rimoin, David L.

Top Publications

Top Publications Authored or Co-Authored by "Rimoin, David L."

• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• International classification of osteochondrodysplasias

  European Journal of Pediatrics, Volume 151, No. 6, Year 1992, Citations 119
• International classification of osteochondrodysplasias

  American Journal of Medical Genetics, Volume 44, No. 2, Year 1992, Citations 74
• Human variome project country nodes: Documenting genetic information within a country

  Human Mutation, Volume 33, No. 11, Year 2012, Citations 38
• Severe Cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

  American Journal of Medical Genetics, Part A, Volume 152, No. 1, Year 2010, Citations 38