Genetics

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.

Gamete simulation improves polygenic transmission disequilibrium analysis.

Exons as units of phenotypic impact for truncating mutations in autism.

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

Estimating genetic nurture with summary statistics of multi-generational genome-wide association studies.

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