Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.
Genetics
The influence of microdeletions and microduplications of 16p11.2 on global transcription profiles.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Copy number variations and cognitive phenotypes in unselected populations.
Modeling a model: Mouse genetics, 22q11.2 deletion syndrome, and disorders of cortical circuit development.
7q11.23 duplication syndrome.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Interactive analysis and assessment of single-cell copy-number variations.
Inactivating mutations in MFSD2A required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Brain genomics superstruct project initial data release with structural, functional, and behavioral measures.
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