Sue Malcolm

Sue Malcolm publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Sue Malcolm sits on this spectrum.

Sue Malcolm D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Sue Malcolm sits on this spectrum.

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