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
Cell-type specific vulnerabilities to STXBP1 haploinsufficiency are identified which may explain hyperexcitability, network dysfunction and cognition deficits in STXBP1-RD, providing potential new therapeutic targets.
A. R. Adam, A. V. van Berkel, M. Vanheusden et al.· Molecular Psychiatry· 0 citations
Findings show distinct noncoding mechanisms that map within GWAS signals, and provide a path forward for interrogating noncoding regulatory elements and variants in disease loci.
Marisa C. Hamilton, Julia W. Riley, Alexander C. Nelson et al.· bioRxiv· 0 citations
