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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

A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder

Allergy alerts — The incidence of parentally reported allergies in children presenting for general anesthesia

Only the minority of parent-reported allergies in pediatric surgical patients were specialist confirmed and likely to be clinically relevant

Apgar score and risk of autism

This study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder

Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention Center

Accurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention