Search

The COSI-2 Trial

Tobias Jenny Strunk Mountain MD, PhD, FRACP MBA MClinEpi Head, Neonatal Health Program Manager, Neonatal Health / Protect Trial tobias.strunk@

Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism

Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.

The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and Trends

iCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

Rett syndrome (RTT) is caused by mutations in the transcriptional repressor methyl CpG-binding protein 2 (MECP2).

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in...

Feeding experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Correlation between clinical severity in patients with Rett syndrome

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Evaluating the use and effectiveness of passive immunization in reducing RSV-associated morbidity in high risk infants

Hannah Tom Moore Snelling OAM BSc (Hons) GradDipClinEpi PhD BMBS DTMH GDipClinEpid PhD FRACP Head, Infectious Diseases Research Head, Infectious