FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2488063178> ?p ?o ?g. }

• W2488063178 endingPage "819" @default.
• W2488063178 startingPage "812" @default.
• W2488063178 abstract "<h3>Background</h3> Developmental coordination disorder is a common neurodevelopment disorder that frequently co-occurs with other neurodevelopmental disorders including attention-deficit hyperactivity disorder (ADHD). Copy-number variations (CNVs) have been implicated in a number of neurodevelopmental and psychiatric disorders; however, the proportion of heritability in developmental coordination disorder (DCD) attributed to CNVs has not been explored. <h3>Objective</h3> This study aims to investigate how CNVs may contribute to the genetic architecture of DCD. <h3>Methods</h3> CNV analysis was performed on 82 extensively phenotyped Canadian children with DCD, with or without co-occurring ADHD and/or reading disorder, and 2988 healthy European controls using identical genome-wide SNP microarrays and CNV calling algorithms. <h3>Results</h3> An increased rate of large and rare genic CNVs (p=0.009) was detected, and there was an enrichment of duplications spanning brain-expressed genes (p=0.039) and genes previously implicated in other neurodevelopmental disorders (p=0.043). Genes and loci of particular interest in this group included: GAP43, RBFOX1, PTPRN2, SHANK3, 16p11.2 and distal 22q11.2. Although no recurrent CNVs were identified, 26% of DCD cases, where sample availability permitted segregation analysis, were found to have a de novo rare CNV. Of the inherited CNVs, 64% were from a parent who also had a neurodevelopmental disorder. <h3>Conclusions</h3> These findings suggest that there may be shared susceptibility genes for DCD and other neurodevelopmental disorders and highlight the need for thorough phenotyping when investigating the genetics of neurodevelopmental disorders. Furthermore, these data provide compelling evidence supporting a genetic basis for DCD, and further implicate rare CNVs in the aetiology of neurodevelopmental disorders." @default.
• W2488063178 created "2016-08-23" @default.
• W2488063178 creator A5000758712 @default.
• W2488063178 creator A5007833631 @default.
• W2488063178 creator A5049074881 @default.
• W2488063178 creator A5049296994 @default.
• W2488063178 creator A5055447596 @default.
• W2488063178 creator A5057687128 @default.
• W2488063178 creator A5069004619 @default.
• W2488063178 creator A5077818820 @default.
• W2488063178 creator A5087055956 @default.
• W2488063178 date "2016-08-03" @default.
• W2488063178 modified "2023-10-17" @default.
• W2488063178 title "Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder" @default.
• W2488063178 cites W1879216107 @default.
• W2488063178 cites W1974467112 @default.
• W2488063178 cites W1981783972 @default.
• W2488063178 cites W1991300390 @default.
• W2488063178 cites W1999610304 @default.
• W2488063178 cites W2005817756 @default.
• W2488063178 cites W2013726744 @default.
• W2488063178 cites W2014057051 @default.
• W2488063178 cites W2024395506 @default.
• W2488063178 cites W2034389137 @default.
• W2488063178 cites W2035473823 @default.
• W2488063178 cites W2037638076 @default.
• W2488063178 cites W2046671000 @default.
• W2488063178 cites W2048438388 @default.
• W2488063178 cites W2056058534 @default.
• W2488063178 cites W2058010582 @default.
• W2488063178 cites W2064877002 @default.
• W2488063178 cites W2067439947 @default.
• W2488063178 cites W207220581 @default.
• W2488063178 cites W2074261331 @default.
• W2488063178 cites W2078908642 @default.
• W2488063178 cites W2080654684 @default.
• W2488063178 cites W2082272770 @default.
• W2488063178 cites W2082905404 @default.
• W2488063178 cites W2087071297 @default.
• W2488063178 cites W2092732735 @default.
• W2488063178 cites W2092825250 @default.
• W2488063178 cites W2098209746 @default.
• W2488063178 cites W2099215679 @default.
• W2488063178 cites W2099448375 @default.
• W2488063178 cites W2099613443 @default.
• W2488063178 cites W2110374888 @default.
• W2488063178 cites W2114327599 @default.
• W2488063178 cites W2141743213 @default.
• W2488063178 cites W2145163559 @default.
• W2488063178 cites W2156825608 @default.
• W2488063178 cites W2160435411 @default.
• W2488063178 cites W2161552944 @default.
• W2488063178 cites W2171396537 @default.
• W2488063178 cites W2259378275 @default.
• W2488063178 cites W4247665917 @default.
• W2488063178 doi "https://doi.org/10.1136/jmedgenet-2016-103818" @default.
• W2488063178 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27489308" @default.
• W2488063178 hasPublicationYear "2016" @default.
• W2488063178 type Work @default.
• W2488063178 sameAs 2488063178 @default.
• W2488063178 citedByCount "39" @default.
• W2488063178 countsByYear W24880631782016 @default.
• W2488063178 countsByYear W24880631782017 @default.
• W2488063178 countsByYear W24880631782018 @default.
• W2488063178 countsByYear W24880631782019 @default.
• W2488063178 countsByYear W24880631782020 @default.
• W2488063178 countsByYear W24880631782021 @default.
• W2488063178 countsByYear W24880631782022 @default.
• W2488063178 countsByYear W24880631782023 @default.
• W2488063178 crossrefType "journal-article" @default.
• W2488063178 hasAuthorship W2488063178A5000758712 @default.
• W2488063178 hasAuthorship W2488063178A5007833631 @default.
• W2488063178 hasAuthorship W2488063178A5049074881 @default.
• W2488063178 hasAuthorship W2488063178A5049296994 @default.
• W2488063178 hasAuthorship W2488063178A5055447596 @default.
• W2488063178 hasAuthorship W2488063178A5057687128 @default.
• W2488063178 hasAuthorship W2488063178A5069004619 @default.
• W2488063178 hasAuthorship W2488063178A5077818820 @default.
• W2488063178 hasAuthorship W2488063178A5087055956 @default.
• W2488063178 hasConcept C104317684 @default.
• W2488063178 hasConcept C106208931 @default.
• W2488063178 hasConcept C118552586 @default.
• W2488063178 hasConcept C120821319 @default.
• W2488063178 hasConcept C122060243 @default.
• W2488063178 hasConcept C127716648 @default.
• W2488063178 hasConcept C135763542 @default.
• W2488063178 hasConcept C141231307 @default.
• W2488063178 hasConcept C153209595 @default.
• W2488063178 hasConcept C15744967 @default.
• W2488063178 hasConcept C205778803 @default.
• W2488063178 hasConcept C2776831707 @default.
• W2488063178 hasConcept C2778594975 @default.
• W2488063178 hasConcept C2779388368 @default.
• W2488063178 hasConcept C54355233 @default.
• W2488063178 hasConcept C86803240 @default.
• W2488063178 hasConcept C9287583 @default.
• W2488063178 hasConceptScore W2488063178C104317684 @default.
• W2488063178 hasConceptScore W2488063178C106208931 @default.

• next