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Our publications

Publications, reports & submissions

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.

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.

Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours

De Sousa SM, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, et al. Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European journal of endocrinology. 2017. 176 (5) : 635—644.

PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories

Doig KD, Fellowes A, Bell AH, Seleznev A, Ma D, Ellul J, et al. PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. Genome medicine. 2017. 9 (1) : 38.

Towards a Global Cancer Knowledge Network: Dissecting the current international cancer genomic sequencing landscape

Vis D J, Lewin J, Liao RG, Mao M, Andre F, Ward RL, et al.. Towards a Global Cancer Knowledge Network: Dissecting the current international cancer genomic sequencing landscape. Annals of Oncology. 2017. 28 (5) : 1145–1151.

Preparing for genomic medicine: a real world demonstration of health system change

Gaff CL, Winship I, Forrest S, Hansen D, Clark J, Waring P, et al. Preparing for genomic medicine: a real world demonstration of health system change. npj Genomic Medicine. 2017. 2 (1) : 16.

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

Perucca, P, Scheffer IE, Harvey S, James P, Lunke S, Thorne N, et al. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. Epilepsy Research. 2017. 131 : 1—8.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, et al.. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA pediatrics. 2017. [ePub ahead of print]

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Mallett, A.J., McCarthy, H.J., Ho, G., Holman, K., Farnsworth, E., Patel, C., et al. (2017). Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int, 92(6), 1493-1506.

Differential expression of MUC4, GPR110 and IL2RA defines two groups of CRLF2-rearranged acute lymphoblastic leukemia patients with distinct secondary lesions

Sadras T, Heatley SL, Kok CH, Dang P, Galbraith KM, McClure BJ, et al. Differential expression of MUC4, GPR110 and IL2RA defines two groups of CRLF2-rearranged acute lymphoblastic leukemia patients with distinct secondary lesions. Cancer letters. 2017. [Epub ahead of print]
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