{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Itai T"],"funding":["NIMH NIH HHS","NLM NIH HHS","National Institutes of Health","NIGMS NIH HHS","NIH HHS"],"pagination":["62-70"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11270591"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["192(3-4)"],"pubmed_abstract":["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 prenata"],"journal":["American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics"],"pubmed_title":["De novo mutations disturb early brain development more frequently than common variants in schizophrenia."],"pmcid":["PMC11270591"],"funding_grant_id":["P20 GM121325","R01MH101054","R01LM012806","R01 LM012806","R01 MH101054","U54 GM104944"],"pubmed_authors":["Jia P","Itai T","Chen J","Chen X","Zhao Z","Dai Y"],"additional_accession":[]},"is_claimable":false,"name":"De novo mutations disturb early brain development more frequently than common variants in schizophrenia.","description":"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 prenata","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2026-06-02T23:35:20.417Z","creation":"2025-04-19T13:12:58.638Z"},"accession":"S-EPMC11270591","cross_references":{"pubmed":["36863698"],"doi":["10.1002/ajmg.b.32932"]}}