Genetics

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

G-graph: An interactive genomic graph viewer.

Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.

Elevated polygenic burden for autism spectrum disorder is associated with the broad autism phenotype in mothers of individuals with autism spectrum disorder.

MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice.

Signatures of sex: Sex differences in gene expression in the vertebrate brain.

Sex differences in the epigenome: A cause or consequence of sexual differentiation of the brain?

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.

In vivo functional study of disease-associated rare human variants using Drosophila.

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