Genetics

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.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

The discovery of integrated gene networks for autism and related disorders.

Maternal modifiers and parent-of-origin bias of the autism-associated 16p11.2 CNV.

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

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