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Research

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Research

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

Research

The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

Research

Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

Research

NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

Infectious Disease Implementation Research

The Infectious Disease Implementation Research Team is a multi-disciplinary group researching the best way to implement infectious disease prevention and treatment strategies to improve the wellbeing of children and teenagers.

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.

Indigenous Genomics

The Indigenous Genomics Group aims to build Indigenous leadership in genomic and data sciences, precision health, and ethics to improve health equity and the wellbeing of Indigenous people, families and communities.

Translational Genetics

The research of the Translational Genetics team is focussed on providing molecular analysis of genetic variants (gene mutations), to better inform the early and accurate diagnosis of children living with genetic and rare diseases.