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Publications

Program design

“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 Genomic Medicine

"Inclusion of diverse populations in genomic research and health services: Genomix workshop report", Matthew, S.S., Barwell, J., Khan, N., Lynch, E., Parker, M., Qureshi, N., Journal of Community Genetics

"A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort", Downie, L., Halliday, J.L., Burt, R.A., Lunke, S., Lynch, E., Martyn, M., Poulakis, Z., Gaff, C., Sung, V., Wake, M., Hunter, M., Saunders, K., Rose, E., Rehm, H.L., Amor, D.J., BMJ Paediatrics Open
 

Evidence for genomics

"Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions", Tan, T.Y., Dillon, O.J., Stark, Z., Schofield, D., Alam, K., Shrestha, R., Chong, B., Phelan, D., Brett, G.R., Creed, E.,  Jarmolowicz, A., Yap, P., Walsh, M., Downie, L., Amor, D.A.,  Savarirayan, R., McGillivray, G., Yeung, A., Peters, H., Robertson, S.J., Robinson, A.J., Macciocca, I., Sadedin, S., Bell, K., Oshlack, A., Georgeson, P., Thorne, N., Gaff, C., White, S.M, JAMA Pediatrics

“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

“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

“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

"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

 

Genomic data

"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