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Research

Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Research

The impact of influenza infection on young children, their family and the health care system

Influenza infection in young children has a significant impact on medication use, absenteeism and the use of health care service

Research

Prevalence of Racial Discrimination in a Cohort of Aboriginal and Torres Strait Islander Children

This study looked at the frequency of racism experiences over time in a population of Aboriginal and Torres Strait Islander children

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Dysregulated IL-1β-GM-CSF Axis in Acute Rheumatic Fever That Is Limited by Hydroxychloroquine

We propose that hydroxychloroquine could be repurposed to reduce the risk of rheumatic heart disease after acute rheumatic fever

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Impact of biobanks on research outcomes in rare diseases: a systematic review

This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks

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Maternal pre-pregnancy weight and autistic-like traits among offspring in the general population

This study provides further evidence that maternal pre-pregnancy obesity is associated with autism-like behaviors in offspring

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Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: An integrative review

We review medical conditions that have been repeatedly highlighted as sharing the strongest associations with ASD-epilepsy, sleep, as well as gastrointestinal and immune functioning

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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables

Research

Midwives’ attitudes, beliefs and concerns about childhood vaccination: A review of the global literature

The majority of midwives supported vaccination, although a spectrum of beliefs and concerns emerged