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A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
This study aimed to describe overall survival and adult health in those with Rett syndrome.
In 2024–2025, we listened to 40 siblings from across Australia share their experiences of family life and social connection. Most had a brother or sister with developmental disability, and others did not. Together, they offered open and thoughtful reflections on roles and responsibilities at home, friendships, fam
This study explored relationships between speech and language abilities in girls with Rett syndrome and how they may be affected by the type of genetic mutation
We interviewed 17 parents with a daughter with Rett syndrome to gain their perspectives on how their daughter communicates and barriers.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.