Home  »  News and publications  »  Publications

Publications

 

“Preparing for genomic medicine: a real world demonstration of the future”, Gaff, C., Winship, I.M., Forrest, S.M., Hansen, D.P., Clark, J., Waring, P.M., South, M., Sinclair, A.H., NPJ Genomics Medicine

“Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy”, Perucca, P., Scheffer, I.E., Harvey, A.S., James, P.J., Lunke, S., Thorne, N., Gaff, C., Regan, B.M., Damiano, J.A., Hildebrand, M.S., Berkovic, S.F., O'Brien, T.J., Kwan, P., Epilepsy Research

“Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy”, Walsh, M., Bell, K.M., Chong, B., Creed, E., Brett, G.R., Pope, K., Thorne, N.P., Sadedin, S., Georgeson, P., Phelan, D.G., Day, T., Taylor, J.A., Sexton, A., Lockhart, P.J., Kiers, L., Fahey, M., Macciocca, I., Gaff, C.L.,
Annals of Clinical and Translational Neurology

“Prospective comparison of the cost-effectiveness of the clinical whole exome sequencing to usual care overwhelmingly supports early use and reimbursement”, Stark, Z., Schofield, D., Alam, K., Wilson, W., Mupfeki, N., Macciocca, I., Shrestha, R., White, S.M., Gaff, C., Genetics in Medicine

"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders", Stark, Z., Tan, T.Y.,  MD, Chong, B., Brett, G.R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D.,  Cowie, S., Amor, D.J., Savarirayan, R., McGillivray, G., Downie, L., Ekert, P.G., Theda, C., James, P.A., Yaplito-Lee, J., Ryan, M.M., Leventer, R.J., Creed, E., Macciocca, I., Bell, K.M., Oshlack, A., Sadedin, S., Georgeson, P., Anderson, C., Thorne, N., Melbourne Genomics Health Alliance, Gaff, C., White, S.M., Genetics in Medicine

"Evaluation of computational programs to predict HLA genotypes from genomic sequencing data", Bauer, D.C., Zadoorian, A., Wilson, L.O.W, Melbourne Genomics Health Alliance, Thorne, N.P., Briefings in Bioinformatics

"Cpipe: a shared variant detection pipeline designed for diagnostic settings", Sadedin, S.P., Dashnow, H., James, P.A., Bahlo, M., Bauer, D.C., Lonie, A., Lunke, S., Macciocca, I., Ross, J.P., Siemering, K.R., Stark, Z., White, S.M., Melbourne Genomics Health Alliance, Taylor, G., Gaff, C., OshlacK, A., Thorne, N.P., Genome Medicine