Diagnostic and cost utility of whole exome sequencing in...
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, et al. Diagnostic...
December 3, 2017
Read More >
Evaluation of computational programs to predict HLA genotypes from...
Bauer D.C, Zadoorian A, Wilson L.O, Melbourne Genomics Health Alliance, Thorne N.P. Evaluation of computational...
December 3, 2016
The promise of personalised medicine
Doble B, Schofield D, Roscioli T, Mattick J. The promise of personalised medicine. The Lancet....
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant...
Mallawaarachchi A.C, Hort Y, Cowley M.J, McCabe M.J, Minoche A, Dinger M.E, et al. Whole-genome...
A multidisciplinary renal genetics clinic improves patient diagnosis
Mallett, A., Fowles, L.F., McGaughran, J., Healy, H., & Patel, C. (2016). A multidisciplinary renal...
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due...
Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman A L, Holloway MR, et al....
Novel germ line DDX41 mutations define families with a...
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G. Lee MK, et al. Novel...
Apparent ‘JAK2-negative’ polycythaemia vera due to compound mutations in...
Tiong IS, Casolari DA, Moore S, Nguyen T, Van Velzen MJ, Zantomio D, et al....
Autosomal dominant hypocalcaemia due to a novel CASR mutation:...
Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS. Autosomal dominant hypocalcaemia due to...