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- W3089513473 abstract "Abstract Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance ( p < 1.25E−06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1 ); of which, 61 reach FWER significance ( p < 3.64E−07; e.g., CASZ1 ). In addition to doubling the number of patients for many NDD risk genes, we present phenotype–genotype correlations for seven risk genes ( CTCF , HNRNPU , KCNQ3 , ZBTB18 , TCF12 , SPEN , and LEO1 ) based on this large-scale targeted sequencing effort." @default.
- W3089513473 created "2020-10-08" @default.
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- W3089513473 date "2020-10-01" @default.
- W3089513473 modified "2023-10-17" @default.
- W3089513473 title "Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders" @default.
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- W3089513473 cites W2128300020 @default.
- W3089513473 cites W2138014988 @default.
- W3089513473 cites W2149440805 @default.
- W3089513473 cites W2160995259 @default.
- W3089513473 cites W2256016639 @default.
- W3089513473 cites W2291183135 @default.
- W3089513473 cites W2417483443 @default.
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- W3089513473 cites W2553463105 @default.