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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next…

Prevalence of electronic device use before bed among Australian children and adolescents: a cross-sectional population level study

To understand the prevalence of children and adolescents’ electronic device use (EDU) in the hour before bed and identify sociodemographic groups tha…

Secondary Antibiotic Prophylaxis for Latent Rheumatic Heart Disease

Rheumatic heart disease affects more than 40.5 million people worldwide and results in 306,000 deaths annually. Echocardiographic screening detects r…

New study identifies African ‘hotspot’ for highly infectious diseases

A regional corner of Africa is a hotspot for cases of HIV, tuberculosis and malaria, prompting researchers to call for targeted health support rather…

Altered Behavior in Encephalitis: Insights From the Australian Childhood Encephalitis Study, 2013-2018

Altered mental status is a major criterion for a diagnosis of encephalitis to be made with alteration in behavior, a key manifestation of altered men…

Brief Report: Facial Asymmetry and Autistic-Like Traits in the General Population

Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). M…

A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-being

Children with neurodevelopmental disorders share common phenotypes, support needs and comorbidities. Such overlap suggests the value of transdiagnost…

Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and Perspectives

By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcome…