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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
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Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's diseaseGenome-wide association studies (GWASs) have been successful at identifying single-nucleotide polymorphisms (SNPs) highly associated with common traits...
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Molecular characterization of identical, novel MLL-EPS15 translocation and individual genomicAcute Lymphoblastic Leukemia (ALL) occurring in the first year of life is rare.
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Clinical investigation of respiratory system admittance in preschool childrenWe compared the ability of Ars, to standard oscillatory outcomes, to determine respiratory disease and differentiate responses to inhaled bronchial challenges.
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Seasonal variation in fetal growth: Accounting for sociodemographic, biological, and environmental exposuresWe sought to investigate seasonal variation in fetal growth, accounting for important sociodemographic, biological, and environmental exposures.
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Child maltreatment: variation in trends and policies in six developed countriesWe explored trends in six developed countries in three types of indicators of child maltreatment for children younger than 11 years.
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Joint attention and parent-child book readingGood language development is an integral component of school readiness and academic achievement.
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Establishing the lowest penicillin concentration to prevent pharyngitis due to Streptococcus pyogenes using a human challenge model (CHIPS)The in-vivo plasma concentration of penicillin needed to prevent Streptococcus pyogenes pharyngitis, recurrent acute rheumatic fever, and progressive rheumatic heart disease is not known. We used a human challenge model to assess the minimum penicillin concentration required to prevent streptococcal pharyngitis.
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 DiabetesContinuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.