Phil Beales

Summary

Affiliation: University College London
Country: UK

Publications

  1. pmc Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
    Caroline Rooryck
    Molecular Medicine Unit, University College London Institute of Child Health, London, UK
    Nat Genet 43:197-203. 2011
  2. pmc Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies
    Daniel P S Osborn
    Biomedical Sciences, St George s University of London, London, United Kingdom
    PLoS ONE 9:e87662. 2014
  3. pmc Our thanks to Cilia's reviewers
    Phil Beales
    UCL Institute of Child Health, London, WC1N 1EH, UK
    Cilia 2:4. 2013

Collaborators

  • Fowzan S Alkuraya
  • DEREK STEMPLE
  • Philip Stanier
  • Hilde Peeters
  • Daniel P S Osborn
  • Victor Hernandez-Hernandez
  • Caroline Rooryck
  • Roger Cox
  • Sonia Christou-Savina
  • Ines Barroso
  • Rosa Maria Roccasecca
  • Sriparna Mukherjee
  • Fiona McMurray
  • Joanna Kenny
  • Dagan Jenkins
  • Maria Bitner-Glindzicz
  • Gabriela F Leal
  • Anna Diaz-Font
  • Franco Carnevale
  • Raoul Hennekam
  • Bruno Dallapiccola
  • Ali Al Kaissi
  • Hanan Shamseldin
  • Elyes Chabchoub
  • Melissa Lees
  • Aoife Waters
  • Alan J Burns

Detail Information

Publications6

  1. pmc Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
    Caroline Rooryck
    Molecular Medicine Unit, University College London Institute of Child Health, London, UK
    Nat Genet 43:197-203. 2011
    ..Finally, we show that CL-K1 serves as a guidance cue for neural crest cell migration. Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome...
  2. pmc Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies
    Daniel P S Osborn
    Biomedical Sciences, St George s University of London, London, United Kingdom
    PLoS ONE 9:e87662. 2014
    ..Furthermore, we present the first evidence that FTO plays a role in development and cilia formation/function. ..
  3. pmc Our thanks to Cilia's reviewers
    Phil Beales
    UCL Institute of Child Health, London, WC1N 1EH, UK
    Cilia 2:4. 2013
    ..Their voluntary participation has led to the launch of a new journal consistently publishing high quality articles and an intelligent peer review process for all our authors...