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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.

Effect of Albuterol Premedication vs Placebo on the Occurrence of Respiratory Adverse Events in Children Undergoing Tonsillectomies: The REACT Randomized Clinical Trial

Determine whether inhaled albuterol sulfate (salbutamol sulfate) premedication decreases the risk of perioperative respiratory adverse events

End-inspiratory molar mass step correction for analysis of infant multiple breath washout tests

We aimed to evaluate the use of the EIMM-step method in a broad range of infants.

Structural determinants of long term functional outcomes in young children with cystic fibrosis

Chest CT identifies children at an early age who have adverse long-term outcomes

Air Trapping on Chest CT Is Associated with Worse Ventilation Distribution in Infants with Cystic Fibrosis

In school-aged children with cystic fibrosis (CF) structural lung damage assessed using chest CT is associated with abnormal ventilation distribution.

Crowding and other strong predictors of upper respiratory tract carriage of otitis media-related bacteria

Streptococcus pneumoniae, Moraxella catarrhalis, and nontypeable Haemophilus influenzae is associated with otitis media

Stan Perron Charitable Foundation grants boost WA child health research

New funding from the Stan Perron Charitable Foundation will support innovative research projects and programs at The Kids Research Institute Australia with the aim of improving the health and wellbeing of WA children and their families. 

A pilot study into assessing the danger of heated-tobacco-products

Alexander Anthony Dr Katherine Larcombe Kicic Landwehr BScEnv (Hons) PhD BSc (Hons) PhD BSc(Hons) Honorary Research Fellow Rothwell Family Fellow;

Vaccine Trials Group

The mission of the Vaccine Trials Group is to improve the health of the community through immunisation and the prevention of infectious diseases.

Editorial: The relationship between puberty and immune-driven disease

The way the immune system operates differs between males and females. This is due to both differential expression of immune-related genes from the sex chromosomes as well as the immune modulatory properties of sex hormones. Together, these effects contribute to a skewed prevalence of disease and disease course between males and females, including allergic-, infectious-, autoimmune-, and cancerous disease.