2019

Benton, Miles, Smith, Robert, Haupt, Larisa, Sutherland, Heidi, Dunn, Paul, Albury, Cassie, Maksemous, Neven, Lea, Rodney, Griffiths, Lyn (2019) Variant Call Format (VCF)-Diagnostic Annotation and Reporting Tool (VCF-DART) A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data Journal of Molecular Diagnostics, 21 (6), pp.951-960. [eprints.qut.edu.au/132754/]
Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Maher, Bridget, Abdelrahman, Omar, Nicholson, Garth A., Carpenter, Elisabeth, Lea, Rodney, Cader, Zameel M., Griffiths, Lyn (2019) Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine Cephalalgia Reports, 2, pp.1-9. [eprints.qut.edu.au/198329/]
Bradshaw, Gabrielle, Haupt, Larisa, Aquino, Eunise, Lea, Rodney, Sutherland, Heidi, Griffiths, Lyn (2019) Single nucleotide polymorphisms in MIR143 contribute to protection against non-Hodgkin lymphoma (NHL) in Caucasian populations Genes, 10 (3), pp.Article number: 185 1-20. [eprints.qut.edu.au/129260/]
Sutherland, Heidi G., Albury, Cassie L., Griffiths, Lyn R. (2019) Advances in genetics of migraine Journal of Headache and Pain, 20, pp.Article number: 72. [eprints.qut.edu.au/202431/]
Benton, Miles C., Lea, Rodney A., MacArtney-Coxson, Donia, Sutherland, Heidi G., White, Nicole, Kennedy, Daniel, Mengersen, Kerry, Haupt, Larisa M., Griffiths, Lyn R. (2019) Genome-wide allele-specific methylation is enriched at gene regulatory regions in a multi-generation pedigree from the Norfolk Island isolate Epigenetics and Chromatin, 12, pp.Article number: 60 1-10. [eprints.qut.edu.au/197592/]
Harvey, N. R., Albury, C.L., Stuart, S., Benton, M. C., Eccles, D. A., Sutherland, H. G., Allcock, R. J.N., Lea, R. A., Haupt, L. M., Griffiths, L. R. (2019) Ion torrent high throughput mitochondrial genome sequencing (HTMGS) PLoS One, 14 (11), pp.Article number: e0224847 1-13. [eprints.qut.edu.au/197431/]