Daniel H. Cohn

Overview

Best Publications

• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

  Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes

  885
  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

• 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

• Nosology and classification of genetic skeletal disorders: 2019 revision.

  Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  513
  Citations

• Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

  Alain Colige;Aleksander L. Sieron;Shi Wu Li;Ulrike Schwarze

  425
  Citations

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

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

  390
  Citations

• WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

  Christine M. Laine;Kyu Sang Joeng;Philippe M. Campeau;Riku Kiviranta

  367
  Citations

• Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

  Yasemin Alanay;Hrispima Avaygan;Natalia Camacho;G. Eda Utine

  355
  Citations

• A type X collagen mutation causes schmid metaphyseal chondrodysplasia

  Matthew L. Warman;Margaret Abbott;Suneel S. Apte;Tim Hefferon

  307
  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

• Procollagen II Amino Propeptide Processing by ADAMTS-3 INSIGHTS ON DERMATOSPARAXIS

  Russell J. Fernandes;Satoshi Hirohata;J. Michael Engle;Alain Colige

  285
  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

• Bacterial bioluminescence: isolation and expression of the luciferase genes from Vibrio harveyi

  Robert Belas;Alan Mileham;Daniel Cohn;Marcia Hilman

  233
  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

• Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

  Deborah Krakow;Joris Vriens;Natalia Camacho;Phi Luong

  221
  Citations

• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

  D H Cohn;B J Starman;B Blumberg;P H Byers

  212
  Citations

• Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias

  J. Hästbacka;A. Superti-Furga;W. R. Wilcox;D. L. Rimoin

  210
  Citations

• Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

  Michael D. Briggs;Michael D. Briggs;Geert R. Mortier;William G. Cole;Lily M. King

  203
  Citations

• Mutations in Orthologous Genes in Human Spondyloepimetaphyseal Dysplasia and the Brachymorphic Mouse

  Faiyaz ul Haque M;King Lm;Krakow D;Krakow D;Cantor Rm

  197
  Citations