Clinical characteristics of seizures and epilepsy in individuals with recurrent deletions and duplications in the 16p11.2 region.
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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
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Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes.
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.
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