Genetics

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

iPSC-derived astrocytes and neurons replicate brain gene expression, epigenetic, cell morphology and connectivity alterations found in autism.

Leveraging polygenic scores to go beyond examinations of pathology among gender-diverse individuals.

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

Using rare genetic mutations to revisit structural brain asymmetry.

Structural models of genome-wide covariance identify multiple common dimensions in autism.

Interpreting polygenic score effects in sibling analysis.

Proteome-wide assessment of clustering of missense variants in neurodevelopmental disorders versus cancer.

Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk.

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

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