My major filed of interest is Human Molecular Genetics. I am specifically interested in Human Genetics Mutations including the MC4R gene involved in obesity and the LDLR gene related to familial Hypercholesterolemia.
1. Khalid K. Alharbi1, Spanakis 1E, Karen Tan 3, Smith MJ, M. A. Aldahmesh O'Dell 1S D, Sayer AA, Lawlor DA, Ebrahim S, Smith GD, O’Rahilly S, Farooqi S, Cyrus Cooper 2, Phillips DI, I N M Day1. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, Scanned by meltMADGE. Human Mutation, 2007, 28(3):294-302. PMID: 17072869
2. Khalid K Alharbi1, Mohammed A. Aldahmesh, 1E Spanakis, 2L Haddad, 2R A Whittall, 1X Chen, 6H Rassoulian, Matt J. Smith, Julie Sillibourne, Nicola J. Ball, Nikki J. Graham, Patricia Briggs, Iain A. Simpson, 3D I W Phillips, 4D A Lawlor, 1S Ye, 2S E Humphries, 3C Cooper, 4G Davey Smith, 4S Ebrahim, Diana M. Eccles, 1I N M Day. Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare and paucimorphic mutations in the general population. Genome Research, (2005). 15 (5): 967-977, PMID: 15998910.
Khalid K. Alharbi and Ian N. Day.
High throughput mutation scanning for LDLR in meltMADGE. Biosciences2005, from gene to system in
Khalid K. Alharbi. Mutation scanning for MC4R gene in
Khalid K. Alharbi. Anthropometric measurements of obesity and MC4R gene
mutation screening in