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Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
Research
Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic LeukemiaInfants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.
Research
Assessing the burden of laboratory-confirmed respiratory syncytial virus infection in a population cohort of Australian children through record linkageRespiratory syncytial virus is pervasive across multiple severity levels and diagnoses. Vaccines targeting children <3 months must be prioritized
Research
Chronic health conditions, mental health and the school: A narrative reviewSchool-based social risk processes in the lives of young people with chronic health conditions are likely to contribute to risk of psychological problems
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Targeting cytokine- and therapy-induced PIM1 activation in preclinical models of T-cell acute lymphoblastic leukemia and lymphomaIL7 and glucocorticoids coordinately drive aberrant activation of PIM1 and suggests that T-ALL and T-LBL patients could benefit from PIM inhibition
Research
Putting ‘Justice’ in Recovery Capital: Yarning about Hopes and Futures with Young People in DetentionWe must celebrate success and hope through a process of mapping and building recovery capital in the justice context at an individual and institutional level