biostudies-literatureItai TNIMH NIH HHSNLM NIH HHSNational Institutes of HealthNIGMS NIH HHSNIH HHS62-70https://www.ebi.ac.uk/biostudies/studies/S-EPMC11270591biostudies-literatureUnknown192(3-4)Investigating functional, temporal, and cell-type expression features of mutations is important for understanding a complex disease. Here, we collected and analyzed common variants and de novo mutations (DNMs) in schizophrenia (SCZ). We collected 2,636 missense and loss-of-function (LoF) DNMs in 2,263 genes across 3,477 SCZ patients (SCZ-DNMs). We curated three gene lists: (a) SCZ-neuroGenes (159 genes), which are intolerant to LoF and missense DNMs and are neurologically important, (b) SCZ-moduleGenes (52 genes), which were derived from network analyses of SCZ-DNMs, and (c) SCZ-commonGenes (120 genes) from a recent GWAS as reference. To compare temporal gene expression, we used the BrainSpan dataset. We defined a fetal effect score (FES) to quantify the involvement of each gene in prenataAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsDe novo mutations disturb early brain development more frequently than common variants in schizophrenia.PMC11270591P20 GM121325R01MH101054R01LM012806R01 LM012806R01 MH101054U54 GM104944Jia PItai TChen JChen XZhao ZDai YfalseDe novo mutations disturb early brain development more frequently than common variants in schizophrenia.Investigating functional, temporal, and cell-type expression features of mutations is important for understanding a complex disease. Here, we collected and analyzed common variants and de novo mutations (DNMs) in schizophrenia (SCZ). We collected 2,636 missense and loss-of-function (LoF) DNMs in 2,263 genes across 3,477 SCZ patients (SCZ-DNMs). We curated three gene lists: (a) SCZ-neuroGenes (159 genes), which are intolerant to LoF and missense DNMs and are neurologically important, (b) SCZ-moduleGenes (52 genes), which were derived from network analyses of SCZ-DNMs, and (c) SCZ-commonGenes (120 genes) from a recent GWAS as reference. To compare temporal gene expression, we used the BrainSpan dataset. We defined a fetal effect score (FES) to quantify the involvement of each gene in prenata2023-01-01T00:00:00Z2023 Apr2026-06-02T23:35:20.417Z2025-04-19T13:12:58.638ZS-EPMC112705913686369810.1002/ajmg.b.32932