FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2950635701> ?p ?o ?g. }

• W2950635701 abstract "Ultra-rare inherited and de novo disruptive variants in highly constrained (HC) genes are enriched in neurodevelopmental disorders 1–5 . However, their impact on cognition in the general population has not been explored. We hypothesize that disruptive and damaging ultra-rare variants (URVs) in HC genes not only confer risk to neurodevelopmental disorders, but also influence general cognitive abilities measured indirectly by years of education (YOE). We tested this hypothesis in 14,133 individuals with whole exome or genome sequencing data. The presence of one or more URVs was associated with a decrease in YOE (3.1 months less for each additional mutation; P-value=3.3×10 −8 ) and the effect was stronger in HC genes enriched for brain expression (6.5 months less, P-value=3.4×10 −5 ). The effect of these variants was more pronounced than the estimated effects of runs of homozygosity and pathogenic copy number variation 6–9 . Our findings suggest that effects of URVs in HC genes are not confined to severe neurodevelopmental disorder, but influence the cognitive spectrum in the general population" @default.
• W2950635701 created "2019-06-27" @default.
• W2950635701 creator A5000113086 @default.
• W2950635701 creator A5001383727 @default.
• W2950635701 creator A5002303468 @default.
• W2950635701 creator A5004018290 @default.
• W2950635701 creator A5005641822 @default.
• W2950635701 creator A5007189110 @default.
• W2950635701 creator A5007645205 @default.
• W2950635701 creator A5008886933 @default.
• W2950635701 creator A5011105177 @default.
• W2950635701 creator A5015235673 @default.
• W2950635701 creator A5017396611 @default.
• W2950635701 creator A5019646038 @default.
• W2950635701 creator A5025429944 @default.
• W2950635701 creator A5028719733 @default.
• W2950635701 creator A5030861470 @default.
• W2950635701 creator A5043655881 @default.
• W2950635701 creator A5047884631 @default.
• W2950635701 creator A5051460895 @default.
• W2950635701 creator A5053574652 @default.
• W2950635701 creator A5054213549 @default.
• W2950635701 creator A5054867399 @default.
• W2950635701 creator A5059511661 @default.
• W2950635701 creator A5061802355 @default.
• W2950635701 creator A5062214008 @default.
• W2950635701 creator A5066237154 @default.
• W2950635701 creator A5068163296 @default.
• W2950635701 creator A5072347906 @default.
• W2950635701 creator A5072702816 @default.
• W2950635701 creator A5073500794 @default.
• W2950635701 creator A5080937461 @default.
• W2950635701 creator A5083052618 @default.
• W2950635701 creator A5083066362 @default.
• W2950635701 date "2016-06-07" @default.
• W2950635701 modified "2023-10-09" @default.
• W2950635701 title "Ultra-rare disruptive and damaging mutations influence educational attainment in the general population" @default.
• W2950635701 cites W1546528060 @default.
• W2950635701 cites W1907683620 @default.
• W2950635701 cites W1986818660 @default.
• W2950635701 cites W2007100755 @default.
• W2950635701 cites W2008627757 @default.
• W2950635701 cites W2018838463 @default.
• W2950635701 cites W2029387902 @default.
• W2950635701 cites W2029641872 @default.
• W2950635701 cites W2045392412 @default.
• W2950635701 cites W2076359272 @default.
• W2950635701 cites W2086072858 @default.
• W2950635701 cites W2087936498 @default.
• W2950635701 cites W2099085143 @default.
• W2950635701 cites W2101043501 @default.
• W2950635701 cites W2103012833 @default.
• W2950635701 cites W2106578986 @default.
• W2950635701 cites W2106814146 @default.
• W2950635701 cites W2115807273 @default.
• W2950635701 cites W2121585268 @default.
• W2950635701 cites W2132297623 @default.
• W2950635701 cites W2138014988 @default.
• W2950635701 cites W2147222241 @default.
• W2950635701 cites W2151072136 @default.
• W2950635701 cites W2155496693 @default.
• W2950635701 cites W2163953557 @default.
• W2950635701 cites W2165707860 @default.
• W2950635701 cites W2168133698 @default.
• W2950635701 cites W2195783463 @default.
• W2950635701 cites W3122206114 @default.
• W2950635701 cites W4236341384 @default.
• W2950635701 doi "https://doi.org/10.1101/050195" @default.
• W2950635701 hasPublicationYear "2016" @default.
• W2950635701 type Work @default.
• W2950635701 sameAs 2950635701 @default.
• W2950635701 citedByCount "0" @default.
• W2950635701 crossrefType "posted-content" @default.
• W2950635701 hasAuthorship W2950635701A5000113086 @default.
• W2950635701 hasAuthorship W2950635701A5001383727 @default.
• W2950635701 hasAuthorship W2950635701A5002303468 @default.
• W2950635701 hasAuthorship W2950635701A5004018290 @default.
• W2950635701 hasAuthorship W2950635701A5005641822 @default.
• W2950635701 hasAuthorship W2950635701A5007189110 @default.
• W2950635701 hasAuthorship W2950635701A5007645205 @default.
• W2950635701 hasAuthorship W2950635701A5008886933 @default.
• W2950635701 hasAuthorship W2950635701A5011105177 @default.
• W2950635701 hasAuthorship W2950635701A5015235673 @default.
• W2950635701 hasAuthorship W2950635701A5017396611 @default.
• W2950635701 hasAuthorship W2950635701A5019646038 @default.
• W2950635701 hasAuthorship W2950635701A5025429944 @default.
• W2950635701 hasAuthorship W2950635701A5028719733 @default.
• W2950635701 hasAuthorship W2950635701A5030861470 @default.
• W2950635701 hasAuthorship W2950635701A5043655881 @default.
• W2950635701 hasAuthorship W2950635701A5047884631 @default.
• W2950635701 hasAuthorship W2950635701A5051460895 @default.
• W2950635701 hasAuthorship W2950635701A5053574652 @default.
• W2950635701 hasAuthorship W2950635701A5054213549 @default.
• W2950635701 hasAuthorship W2950635701A5054867399 @default.
• W2950635701 hasAuthorship W2950635701A5059511661 @default.
• W2950635701 hasAuthorship W2950635701A5061802355 @default.
• W2950635701 hasAuthorship W2950635701A5062214008 @default.
• W2950635701 hasAuthorship W2950635701A5066237154 @default.
• W2950635701 hasAuthorship W2950635701A5068163296 @default.
• W2950635701 hasAuthorship W2950635701A5072347906 @default.

• next