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There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.

COVID-19 has had far-reaching impacts including changes in work, travel, social structures, education, and healthcare. This study aimed to explore the experiences of parents of children receiving treatment for cancer during the COVID-19 pandemic.

Lower airway biofilms are hypothesised to contribute to poor treatment outcomes among children with chronic lung disease; however, data are scarce.

It is known that a previous preterm birth increases the risk of a subsequent preterm birth, but a limited number of studies have examined this beyond two consecutive pregnancies. This study aimed to assess the risk and patterns of (recurrent) preterm birth up to the fourth pregnancy.

HIV, tuberculosis (TB) and malaria are the three most important infectious diseases in Ethiopia, and sub-Saharan Africa. Understanding the spatial codistribution of these diseases is critical for designing geographically targeted and integrated disease control programmes. This study investigated the spatial overlap and drivers of HIV, TB and malaria prevalence in Ethiopia.

Evidence suggests that individuals with autism spectrum disorder have increased rates of co-occurring psychosis and/or bipolar disorder. Considering the peak age of onset for psychosis and bipolar disorder occurs in adulthood, we investigated the co-occurrence of these disorders in adults with autism.

Population-level studies of severe pertussis extending beyond infancy are sparse, and none in the context of antenatal vaccination. We compared hospitalized pertussis cases from birth to 15 years of age before and after introduction of antenatal immunization.

There is a large volume of research on the persistence of advantage and disadvantage across generations. Intergenerational studies typically address family resources as independent factors, which ignores how risks cluster together and accumulate over time.

The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.

To assess the degree to which timely audiological assessment of congenital hearing loss is achieved at our institution - Perth Children's Hospital, Western Australia, and to review cases which breached this timeframe in order to address barriers to timely assessment. The benchmark used to determine timely assessment is that set out by The Joint Committee on Infant Hearing (JCIH) in which diagnostic audiological testing occurs by three months of age for those who do not pass newborn hearing screening.