Genetics

Characterization of sex differences in autism by polygenic clustering

Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.

Dopaminergic gene dosage reveals distinct biological partitions between autism and developmental delay as revealed by complex network analysis and machine learning approaches.

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: An expanded series with functional characterisation and genotype-phenotype analysis.

Similar rates of deleterious copy number variants in early-onset psychosis and autism spectrum disorder.

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.

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