Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders.
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
NKCC1 chloride importer antagonists attenuate many neurological and psychiatric disorders.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
A MEG study of acute arbaclofen (STX-209) administration.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.
Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features.
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder.
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
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