Dr. Lorne Lonie

Post-doctoral Research Scientist Contact details E: lorne@well.ox.ac.uk

Lorne studied at Aberdeen University for five years and obtained a BSc Hons degree in Biochemistry and an MSc in Medical Molecular Genetics. He joined the Core Genetics Group in 1998 and oversees the Core Mutation detection facility. He has recently completed his D Phil. at the University of Oxford, on the Molecular Characterisation of Hereditary Multiple Exostoses. In 2008 Lorne set up the Solexa facility within the Sequencing Production Group. He is currently managing the Sequencing Production group utilizing Illumina's HiSeq and GAII platforms.

Recent Publications

Porter D. E., Lonie L., Fraser M., Dobson-Stone C., Porter J. R., Monaco A. P., and Simpson A. H. (2004). Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 86: 1041-6. [PMID: 15446535]

Giouzeli M., Williams N. A., Lonie L., DeLisi L. E., and Crow T. J. (2004). ProtocadherinX/Y, a candidate gene-pair for schizophrenia and schizoaffective disorder: a DHPLC investigation of genomic sequence. Am J Med Genet B Neuropsychiatr Genet 129: 1-9. [PMID: 15274028]

Fairclough R. J., Lonie L., Van Baelen K., Haftek M., Munro C. S., Burge S. M., and Hovnanian A. (2004). Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. J Invest Dermatol 123: 67-71. [PMID: 15191544]

Winsey S., Lonie L., Allen J., Bunce M., Marshall S. E., and Wojnarowska F. (2004). Genetic variation in COL17A1 and the development of bullous pemphigoid. Exp Dermatol 13: 140-7. [PMID: 14987253]

Halliday D. J., Hutchinson S., Lonie L., Hurst J. A., Firth H., Handford P. A., and Wordsworth P. (2002). Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. J Med Genet 39: 589-93. [PMID: 12161601]

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