Genetics

Effect sizes of deletions and duplications on autism risk across the genome.

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.

Patterns of de novo tandem repeat mutations and their role in autism.

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.

Polygenicity in psychiatry-like it or not, we have to understand it.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Missense variant contribution to USP9X-female syndrome.

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly.

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