The promise of personalised medicine
Doble B, Schofield D, Roscioli T, Mattick J. The promise of personalised medicine. The Lancet....
December 3, 2016
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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...
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous...
Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, et al. Ectrodactyly...
Targeted pharmacotherapy after somatic cancer mutation screening
Polasek TM, Ambler K, Scott HS, Sorich MJ, Kaub PA, Rowland A, et al. Targeted...