My expertise lies in applying genetics and genomics to identify the genes and molecular lesions underlying familial and sporadic diseases. Here, I will utilise high throughput sequencing technology to discover epigenetic regulatory mechanisms in a unique collection of placental samples and serially collected serum and plasma samples obtained from optimally phenotyped cases of human foetal growth restriction and matched controls from the same prospective cohort of ~4500 women. The data obtained will be used to develop novel biomarkers for foetal growth restriction in a clinical context.
Johnson MD, Mueller M, Game L and Aitman TJ. “Single nucleotide analysis of cytosine methylation by whole-genome shotgun bisulfite sequencing.” Current Protocols in Molecular Biology. (2012) July Unit 21.23.
Johnson MD, He L, Herman D, Wakimoto H, Wallace CA, Zidek V, Mlejnek P, Musilova A, Simakova M, Vorlicek J, Kren V, Viklicky O, Qi NR, Wang J, Seidman CE, Seidman J, Kurtz TW, Aitman TJ, and Pravenec M. “Dissection of chromosome 18 blood pressure and salt-sensitivity quantitative trait loci in the spontaneously hypertensive rat.” Hypertension. (2009) 54(3):639-45.
Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM. “Mutations in ANKH cause chondrocalcinosis.” American Journal of Human Genetics. (2002) 71(4):933-40.