Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes.
Preprints
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.
Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.
Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.
Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism.
Variation in glutamate and GABA genes and their association with brain structure and chemistry in autism.
The contributions of rare inherited and polygenic risk to ASD in multiplex families.
QuNex — An integrative platform for reproducible neuroimaging analytics.
Ankyrin-B is lipid-modified by S-palmitoylation to promote dendritic membrane scaffolding of voltage-gated sodium channel Nav1.2 in neurons.
Peripheral auditory nerve impairment in a mouse model of syndromic autism.
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