Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes.
Simons Searchlight
Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.
Spontaneous neural activity relates to psychiatric traits in 16p11.2 CNV carriers: An analysis of EEG spectral power and multiscale entropy.
Contrastive machine learning reveals the structure of neuroanatomical variation within autism.
Consistency of parent-report SLC6A1 data in Simons Searchlight with provider-based publications.
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
Multi-omic analysis along the gut-brain axis points to a functional architecture of autism.
16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis.
Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome.
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