Publications

A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH
Sadras T, Heatley SL, Kok CH, McClure BJ, Yeung D, Hughes TP, et al. A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH. Cancer Genetics. 2017. 216—217 : 86—90.

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]

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, et al. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International. 2017. [In press]

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]

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, et al. Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Annals of clinical and translational neurology. 2017. 4 (5) : 318—325.