William Reardon

Research.com Recognitions

• 2026 - Research.com Genetics in Ireland Leader Award
• 2025 - Research.com Genetics in Ireland Leader Award

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

• Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

  H G Harley;J D Brook;S A Rundle;S Crow

  933
  Citations

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  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

• Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

  Reardon W;Ross Rj;Sweeney Mg;Luxon Lm

  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

• Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

  Frederick S. Kaplan;Meiqi Xu;Petra Seemann;J. Michael Connor

  468
  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

• Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

  Deborah J. Shears;Humberto J. Vassal;Frances R. Goodman;Rodger W. Palmer

  370
  Citations

• Okihiro syndrome is caused by SALL4 mutations

  Jürgen Kohlhase;Marielle Heinrich;Lucia Schubert;Manuela Liebers

  354
  Citations

• Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

  Ningwu Huang;Amit Vikram Pandey;Vishal Agrawal;William Reardon

  349
  Citations

• Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

  Christiane Zweier;Maarit M Peippo;Juliane Hoyer;Sergio Sousa

  349
  Citations

• Assisted reproductive therapies and imprinting disorders—a preliminary British survey

  A.G. Sutcliffe;C.J. Peters;S. Bowdin;K. Temple

  342
  Citations

• Radiological malformations of the ear in pendred syndrome

  P.D. Phelps;R.A. Coffey;R.A. Coffey;R.C. Trembath;R.C. Trembath;L.M. Luxon;L.M. Luxon

  339
  Citations

• Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

  Mayada Tassabehji;Kay Metcalfe;Annette Karmiloff-Smith;Martin J. Carette

  329
  Citations

• A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

  Alison J. Ross;Victor Ruiz-Perez;Yiming Wang;Donna Marie Hagan

  328
  Citations

• Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

  Beth Coyle;William Reardon;Jo-Anne Herbrick;Lap-Chee Tsui

  323
  Citations

• Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

  Nadege Bondurand;Nadege Bondurand;Florence Dastot-Le Moal;Laure Stanchina;Laure Stanchina;Nathalie Collot

  320
  Citations