A multidisciplinary renal genetics clinic improves patient diagnosis
Mallett A, Fowles LF, McGaughran J, Healy H, Patel C.. A multidisciplinary renal genetics clinic improves patient diagnosis. Medical Journal of Australia. 2016. 204 (2) : 58—9.

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease
Connor T.M, Hoer S, Mallett A, Gale D, Gomez-Duran A, Posse V, et al. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLOS Genetics. 2017. 13 (3) : e1006620.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Schofield D, Alam K, Douglas L, Shrestha R, MacArthur D, Davis M, et al. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. NPJ Genomic Medicine. 2017. 2 (1) : 4.

Whole-genome landscape of pancreatic neuroendocrine tumours
Scarpa A, Chang D.K, Nones K, Corbo V, Patch A.M, Bailey P, et al. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature Genetics. 2017. [ePub ahead of print]

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman H A.F, Xiong B, Coe B.P, Wang T, Hoekzema K, Fenckova M, et al. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature Genetics. 2017. [Epub ahead of print]