William G. Cole

Overview

Best Publications

• Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

  S Mundlos;S Mundlos;F Otto;C Mundlos;C Mundlos;J.B Mulliken

  1852
  Citations

• WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

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

  367
  Citations

• Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up.

  Adam M. Huber;Pei-Yoong Lam;Catherine M. Duffy;Rae S.M. Yeung

  335
  Citations

• Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

  Alex Stacey;John Bateman;Ted Choi;Tom Mascara

  311
  Citations

• Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

  E. Schipani;Craig Langman;A. M. Parfitt;G. S. Jensen

  310
  Citations

• A mutant PTH/PTHrP type I receptor in enchondromatosis

  Sevan Hopyan;Nalan Gokgoz;Raymond Poon;Robert C. Gensure

  294
  Citations

• New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.

  Prasuna Paluru;Shawn M Ronan;Elise Heon;Marcella Devoto;Marcella Devoto

  269
  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

• Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children

  Heini Hartikka;Outi Mäkitie;Outi Mäkitie;Minna Männikkö;Andrea S Doria

  253
  Citations

• Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets

  O Mäkitie;A Doria;S W Kooh;W G Cole

  247
  Citations

• Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

  J F Bateman;T Mascara;D Chan;W G Cole

  228
  Citations

• Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

  Iain McIntosh;Sandra D. Dreyer;Sandra D. Dreyer;Mark V. Clough;Jennifer A. Dunston

  207
  Citations

• Reliability of radiological measurements in the assessment of the child's hip

  NS Broughton;DI Brougham;WG Cole;MB Menelaus

  206
  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

• Resection for symptomatic talocalcaneal coalition

  P H Wilde;I P Torode;D R Dickens;W G Cole

  202
  Citations

• Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

  Lamandé;Chessler Sd;Golub Sb;Byers Ph

  195
  Citations

• A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

  Robert C. Gensure;Outi Mäkitie;Outi Mäkitie;Catherine Barclay;Catherine Chan

  187
  Citations

• Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro.

  D Chan;S R Lamande;W G Cole;J F Bateman

  177
  Citations

• Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

  O Mäkitie;L Ellis;PR Durie;JA Morrison

  170
  Citations

• Dislocation of the hip in cerebral palsy. Natural history and predictability

  P. H. Cooke;W. G. Cole;R. P. L. Carey

  168
  Citations