A whole-genome sequencing analysis of 3109 samples across 1033 Chinese ASD families expands the ASD genetic landscape and suggest convergent pathogenic axes involving transcriptional regulation, synaptic signaling and plasticity, and neuroimmune interactions.
This study finds that rare variants across hundreds of genes contribute to autism with variable phenotypic outcomes, and clusters them based on association evidence from large-scale studies of developmental disorders, schizophrenia, bipolar disorder, and epilepsy.
F. Satterstrom, C. Auwerx, J.-M. Fu et al.· medRxiv· 1 citation
Increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs, reflecting a real-world clinical setting rather than a prospectively recruited research cohort.
M. R. Di Iorio, Ilaria La Monica, Antonio Imperatore et al.· International Journal of Mol...· 0 citations
Gene-based association testing, meta-analysis, functional prioritization, and effect-size estimation revealed several novel NSCLP candidate genes and confirmed associations with previously reported genes, providing strong support for a polygenic inheritance model in NSCLP.
Yao Yu, G. Kowalczyk, Chad D. Huff et al.· European Journal of Human Ge...· 0 citations
It is found that damaging de novo single-nucleotide variants and frameshift indels explain 3.4% (95% CI: 2.1% - 4.7%) of autism variance on the observed scale.
A. Nadig, J. Fu, F. Satterstrom et al.· medRxiv· 0 citations
This work delivers the most thorough delineation of BD-associated CNVs in Han Chinese to date, underscoring the imperative for ancestry-inclusive research to comprehensively unravel psychiatric genomics and unveiling fresh mechanistic perspectives on BD etiology.
Yong Wu, Xiangyu Li, Yao-Yao Sun et al.· Molecular Psychiatry· 0 citations
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