Sue Malcolm

Overview

Best Publications

• Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

  Andrew O.M. Wilkie;Andrew O.M. Wilkie;Sarah F. Slaney;Sarah F. Slaney;Michael Oldridge;Michael D. Poole

  1074
  Citations

• Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

  William Reardon;Robin M. Winter;Paul Rutland;Louise J. Pulleyn

  1023
  Citations

• Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

  Ulf Korthäuer;Daniel Graf;Hans W. Mages;Francine Brière

  871
  Citations

• A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

  M Muenke;U Schell;A Hehr;N H Robin

  846
  Citations

• Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

  Y. J. M. De Kok;S. M. Van Der Maarel;M. Bitner-Glindzicz;I. Huber

  571
  Citations

• Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

  P Rutland;L J Pulleyn;W Reardon;M Baraitser

  538
  Citations

• Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

  E. Nelis;C. van Broeckhoven;E.C.M. Mariman;A.A.W.M. Gabreëls-Festen

  515
  Citations

• IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

  Jessica Tyson;Lisbeth Tranebjærg;Sue Bellman;Christopher Wren

  425
  Citations

• Identification of the gene for oral-facial-digital type I syndrome.

  Maria I. Ferrante;Sally A. Feather;Alessandro Bulfone;Victoria Wright

  388
  Citations

• Uniparental paternal disomy in Angelman's syndrome

  S. Malcolm;J. Clayton-Smith;M. Nichols;M.E. Pembrey

  379
  Citations

• A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

  Maria Bitner-Glindzicz;Keith J. Lindley;Paul Rutland;Diana Blaydon

  368
  Citations

• Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.

  B B A de Vries;S M White;S J L Knight;R Regan

  345
  Citations

• Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

  Mary L. Marazita;Jeffrey C. Murray;Andrew C. Lidral;Mauricio Arcos-Burgos

  302
  Citations

• Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization

  S Malcolm;P Barton;C Murphy;M A Ferguson-Smith

  302
  Citations

• Fibroblast growth factor receptors: lessons from the genes.

  David Burke;David Wilkes;Tom L. Blundell;Sue Malcolm

  221
  Citations

• OFD1 Is a Centrosomal/Basal Body Protein Expressed during Mesenchymal-Epithelial Transition in Human Nephrogenesis

  Leila Romio;Andrew M. Fry;Paul J.D. Winyard;Sue Malcolm

  213
  Citations

• Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy

  Apiwat Mutirangura;Frank Greenberg;Merlin G. Butler;Sue Malcolm

  211
  Citations

• Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

  Shinji Saitoh;Karin Buiting;Peter K. Rogan;Jessica L. Buxton

  203
  Citations

• Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

  N.J. Prescott;M.M. Lees;R.M. Winter;S. Malcolm

  191
  Citations

• Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

  K. Buiting;B. Dittrich;S. Gross;C. Lich

  187
  Citations