Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal model.
Preprints
The oft-overlooked massively parallel reporter assay: Where, when, and which psychiatric genetic variants are functional?
Massively parallel disruption of enhancers active during human corticogenesis.
Towards neurosubtypes in autism.
G-graph: An interactive genomic graph viewer.
FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell types.
Shared risk alleles with discordant polygenic effects: Disentangling the genetic overlap between ASD and ADHD.
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways.
Placental neurosteroids shape cerebellar development and social behaviour.
Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus.
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