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  • Sarah Leigh, Andrew H. Foster, Ros A Whittall, Christina Hubbart, Steve E Humphries
  • Medicine, Biology
  • Annals of human genetics
  • 2008 (First Publication: 1 July 2008)
  • Familial hypercholesterolemia (FH) (OMIM 143890) is most commonly caused by variations in the LDLR gene which encodes the receptor for Low Density Lipoprotein (LDL) cholesterol particles. We haveExpand
  • Steve E Humphries, Ros A Whittall, +10 authors H. Andrew W. Neil
  • Medicine, Biology
  • Journal of Medical Genetics
  • 2006 (First Publication: 6 July 2006)
  • Aims: To determine the relative frequency of mutations in three different genes (low-density lipoprotein receptor (LDLR), APOB, PCSK9), and to examine their effect in development of coronary heartExpand
  • Tony El Hayek, Jeffrey W Stephens, +6 authors Steve E Humphries
  • Medicine
  • Atherosclerosis
  • 2006 (First Publication: 1 February 2006)
  • INTRODUCTION Glutathione S transferases (GST) are enzymes responsible for the metabolism of numerous xenobiotics and play a major cellular antioxidant role. Our aim was firstly, to examine theExpand
  • Marileia Scartezini, Christina Hubbart, Ros A Whittall, Jackie A. Cooper, Andrew H.W. Neil, Steve E Humphries
  • Medicine
  • Clinical science
  • 2007 (First Publication: 1 December 2007)
  • In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasmaExpand