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The course and prognostic capability of motor difficulties in infants showing early signs of autism

Delays within the motor domain are often overlooked as an early surveillance marker for autism. The present study evaluated motor difficulties and its potential as an early predictive marker for later autism likelihood in a cohort of infants showing early behavioral signs of autism aged 9-14 months. The motor domain was evaluated using the motor subscales of the Mullen Scales of Early Learning at baseline, and at a 6-month follow-up.

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Exome 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.

Racial discrimination and child and adolescent health in longitudinal studies: A systematic review

This review emphasises the need to gain evidence for the mechanisms linking early racism exposure to adverse health outcomes in later life

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

CASSETTE-clindamycin adjunctive therapy for severe Staphylococcus aureus treatment evaluation: Study protocol for a randomised controlled trial

This study will assess the effect of adjunctive clindamycin on patient-centred outcomes in severe, toxin-mediated S. aureus infections

Prevalence of Racial Discrimination in a Cohort of Aboriginal and Torres Strait Islander Children

This study looked at the frequency of racism experiences over time in a population of Aboriginal and Torres Strait Islander children

Effectiveness of a 3 + 0 pneumococcal conjugate vaccine schedule against invasive pneumococcal disease among a birth cohort of 1.4 million children in Australia

Our population-based cohort study demonstrates that >90% coverage in the first year of a universal 3 + 0 PCV program provided high population-level protection

Role of viral and bacterial pathogens in causing pneumonia among Western Australian children: A case-control study protocol

We aim to determine the contribute of bacteria and virus to childhood CAP to inform further development of effective strategies.

A randomised controlled trial of an iPad-based application to complement early behavioural intervention in Autism Spectrum Disorder

Technology-based interventions may provide a relatively low-cost addition to existing therapist-delivered interventions for children with ASD

Cord blood Streptococcus pneumoniae-specific cellular immune responses predict early pneumococcal carriage in high-risk infants in Papua New Guinea

We aimed to explore whether newborns in high-risk areas have pre-existing pneumococcal-specific cellular immune responses that effects early acquisition.