Inactivating mutations in MFSD2A required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Chromatin regulators, phenotypic robustness, and autism risk.
Dysregulation of synaptic plasticity precedes appearance of morphological defects in a PTEN conditional knockout mouse model of autism.
Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism.
Using whole-exome sequencing to identify inherited causes of autism.
Exome sequencing can improve diagnosis and alter patient management.
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.
- Previous Page
- Viewing
- Next Page