Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked develop…
relating to child disability and rare paediatric disorders.The RoleWe ... databases for two rare intellectual disability disorders, Rett syndrome and…
Brain-behavior links in autism spectrum disorder across the lifespan
Multiple sclerosis (MS) demonstrates a latitude gradient in prevalence and severity, implicating ultraviolet B (UVB) exposure and photoimmune mechani…
COVID-19 related non-pharmaceutical interventions (NPIs) disrupted global healthcare utilisation, with notable declines in infection related paediatr…
Maternal immune activation and prenatal maternal stress are well-studied risk factors for psychiatric conditions such as autism and schizophrenia. An…
The Australian guidelines to reduce health risks from drinking alcohol were released in 2020 by the National Health and Medical Research Council. Bas…
Establishing a genomic reference for Australian Aboriginal populations
We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility
Burn injuries are devastating traumas, often leading to life-long consequences that extend beyond the observable burn scar. In the context of the ner…