Genetics

Human-specific gene expansions contribute to brain evolution.

Multi-ancestry phenome-wide association of complement component 4 variation with psychiatric and brain phenotypes in youth.

Subcortical brain alterations in carriers of genomic copy number variants.

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

The female protective effect against autism spectrum disorder.

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

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