Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism...
Stessman H A.F, Xiong B, Coe B.P, Wang T, Hoekzema K, Fenckova M, et al....
December 3, 2017
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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...
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric...
Schofield D, Alam K, Douglas L, Shrestha R, MacArthur D, Davis M, et al. Cost-effectiveness...
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...
Germline variants in familial pituitary tumour syndrome genes are...
De Sousa SM, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, et al....
PathOS: a decision support system for reporting high throughput...
Doig KD, Fellowes A, Bell AH, Seleznev A, Ma D, Ellul J, et al. PathOS:...
Towards a Global Cancer Knowledge Network: Dissecting the current...
Vis D J, Lewin J, Liao RG, Mao M, Andre F, Ward RL, et al.....
Preparing for genomic medicine: a real world demonstration of...
Gaff CL, Winship I, Forrest S, Hansen D, Clark J, Waring P, et al. Preparing...
Real-world utility of whole exome sequencing with targeted gene...
Perucca, P, Scheffer IE, Harvey S, James P, Lunke S, Thorne N, et al. Real-world...