Genetics

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.

TRAP-based allelic translation efficiency imbalance analysis to identify genetic regulation of ribosome occupancy in specific cell types in vivo.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation.

H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives.

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