• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications (all current information on this profile has been aggregated automatically from publisher and metadata sources).
  • Emma E M Jaeger, Simon J Leedham, +11 authors Ian Tomlinson
  • Medicine, Biology
  • Nature Genetics
  • 2012 (First Publication: 1 June 2012)
  • Hereditary mixed polyposis syndrome (HMPS) is characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportionContinue Reading
  • Dagan Wells, Kulvinder Kaur, +4 authors Santiago Munné
  • Medicine, Biology
  • Journal of medical genetics
  • 2014 (First Publication: 1 August 2014)
  • BACKGROUND The majority of human embryos created using in vitro fertilisation (IVF) techniques are aneuploid. Comprehensive chromosome screening methods, applicable to single cells biopsied fromContinue Reading
  • Khalid Abozguia, Perry M Elliott, +10 authors Michael P. Frenneaux
  • Medicine
  • Circulation
  • 2010 (First Publication: 1 October 2010)
  • BACKGROUND Hypertrophic cardiomyopathy patients exhibit myocardial energetic impairment, but a causative role for this energy deficiency in the pathophysiology of hypertrophic cardiomyopathy remainsContinue Reading
  • Debora Bogani, Catherine Colagross Willoughby, +21 authors Ruth M Arkell
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 2005 (First Publication: 30 August 2005)
  • Monosomy of the human chromosome 6p terminal region results in a variety of congenital malformations that include brain, craniofacial, and organogenesis abnormalities. To examine the genetic basis ofContinue Reading