Genetics

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.

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders.

The role of somatic mosaicism in brain disease.

Targeted long-read sequencing identifies missing disease-causing variation.

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