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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

Research priorities for childhood chronic conditions: a workshop report

Research priorities emphasise a focus on life participation, psychosocial well-being, impact on family and quality of care

Research

Persistent negative symptoms in individuals at Ultra High Risk for psychosis

Persistent negative symptoms can be detected early, allowing for the identification of a subset of Ultra High Risk patients who are likely to have poor outcome

Research

Epidemiology of gastrostomy insertion for children and adolescents with intellectual disability

Gastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers

Research

Early life innate immune signatures of persistent food allergy

Early life innate immune dysfunction may represent a key immunological driver and predictor of persistent food allergy in childhood

Research

The impact of respiratory viruses on lung health after preterm birth

The aim of this review is to highlight the risk factors that may contribute to increased susceptibility to viral respiratory infections among preterm infants

Research

PI3K activation in neural stem cells drives tumorigenesis which can be ameliorated by targeting the cAMP response element binding protein

Our findings present a novel mouse model for glioma demonstrating that the PI3K pathway is important for initiation of tumorigenesis