David L. Rimoin

Research.com Recognitions

• 1995 - Fellow of the American Association for the Advancement of Science (AAAS)
• 1992 - Member of the National Academy of Medicine (NAM)
• 1976 - E. Mead Johnson Award, Society for Pediatric Research
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians

Overview

Best Publications

• Central challenges facing the national clinical research enterprise.

  Nancy S. Sung;William F. Crowley;Myron Genel;Patricia Salber

  1553
  Citations

• International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

  P. Beighton;A. de Paepe;D. Danks;G. Finidori

  934
  Citations

• Nosology and classification of genetic skeletal disorders : 2010 revision

  Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  785
  Citations

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

  Patricia L. Tavormina;Rita Shiang;Leslie M. Thompson;Ya-Zhen Zhu

  695
  Citations

• Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

  William S. Sly;Barbara A. Quinton;William H. McAlister;David L. Rimoin

  650
  Citations

• Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

  M D Briggs;S M Hoffman;L M King;A S Olsen

  566
  Citations

• Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

  Yaoqin Gong;Deborah Krakow;Deborah Krakow;Jose Marcelino;Douglas Wilkin

  390
  Citations

• STANDARD GROWTH CURVES FOR ACHONDROPLASIA

  William A. Horton;Jerome I. Rotter;David L. Rimoin;Charles I. Scott

  347
  Citations

• Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

  Nancy Braverman;Paul Lin;Fabian F. Moebius;Cassandra Obie

  311
  Citations

• Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

  Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan

  304
  Citations

• International classification of osteochondrodysplasias

  P. Beighton;A. Giedion;R. Gorlin;J. Hall

  270
  Citations

• Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

  D. O. Sillence;K. K. Barlow;A. P. Garber;J. G. Hall

  265
  Citations

• Pachydermoperiostosis: an update

  M. Castori;L. Sinibaldi;R. Mingarelli;R. S. Lachman

  261
  Citations

• The skeletal dysplasias

  Deborah Krakow;David L Rimoin;David L Rimoin

  260
  Citations

• Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

  Brendan Lee;Henrik Vissing;Francesco Ramirez;David Rogers

  259
  Citations

• Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

  Matthew J Rock;Jean Prenen;Vincent A Funari;Tara L Funari

  254
  Citations

• CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.

  Dustin Baldridge;Ulrike Schwarze;Roy Morello;Jennifer Lennington

  252
  Citations

• Apnea and sudden unexpected death in infants with achondroplasia

  Richard M. Pauli;Charles I. Scott;E. Robert Wassman;Enid F. Gilbert

  245
  Citations

• Genetics of diabetes mellitus.

  Rimoin Dl

  235
  Citations

• Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

  Superti-Furga A;Superti-Furga A;Hästbacka J;Wilcox Wr;Cohn Dh

  232
  Citations