Objective: Mental health challenges are highly prevalent in autism, but the degree to which they are similar in experience and etiology to the general population remains unclear. This study's objective was characterization of phenotypic and genetic architectures of psychiatric symptomatology in versus out-of-autism. Me...
T. Thomas, S.-S. Kuo, C. Lefebvre et al.· medRxiv· 0 citations
In this study, we present the largest rare coding variant association study of schizophrenia to date, with 87,959 schizophrenia cases and 150,587 controls. We identify 16 genes at exome-wide significance: SETD1A, ZMYM2, HERC1, RB1CC1, SCAF1, XPO7, SP4, FYN, PPP3CA, CUL1, HDAC9, JARID2, ATP9A, PTK2, STAG1, and SCN2A, an...
J. Sealock, C. Dowd, Calwing Liao et al.· bioRxiv· 1 citation
Together, these results implicate a constellation of rare variants that map onto neuronal biology and demonstrate that diverse global populations converge on shared genetic signals underlying BD risk.
Calwing Liao, Robert Ye, J. Sealock et al.· medRxiv· 0 citations
Together, these findings anchor ASD genetic vulnerability to specific neurodevelopmental lineages, epochs, and molecular substrates, and delineate the features that distinguish ASD from comorbidities with broader developmental impacts.
Rachel L. Smith, Yun-Dan Liao, L. Klei et al.· bioRxiv· 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 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
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