Interactive analysis and assessment of single-cell copy-number variations.
Genetics
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.
From de novo mutations to personalized therapeutic interventions in autism.
Genotype to phenotype relationships in autism spectrum disorders.
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