Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990281384> ?p ?o ?g. }
Showing items 1 to 64 of
64
with 100 items per page.
- W1990281384 endingPage "171" @default.
- W1990281384 startingPage "167" @default.
- W1990281384 abstract "Individuals with intellectual disability (ID) and/or neurodevelopment disorders (NDDs) are currently investigated with several different approaches in clinical genetic diagnostics.We compared the results from 3 diagnostic pipelines in patients with ID/NDD: genome sequencing (GS) first (N = 100), GS as a secondary test (N = 129), or chromosomal microarray (CMA) with or without FMR1 analysis (N = 421).The diagnostic yield was 35% (GS-first), 26% (GS as a secondary test), and 11% (CMA/FMR1). Notably, the age of diagnosis was delayed by 1 year when GS was performed as a secondary test and the cost per diagnosed individual was 36% lower with GS first than with CMA/FMR1. Furthermore, 91% of those with a negative result after CMA/FMR1 analysis (338 individuals) have not yet been referred for additional genetic testing and remain undiagnosed.Our findings strongly suggest that genome analysis outperforms other testing strategies and should replace traditional CMA and FMR1 analysis as a first-line genetic test in individuals with ID/NDD. GS is a sensitive, time- and cost-effective method that results in a confirmed molecular diagnosis in 35% of all referred patients." @default.
- W1990281384 created "2016-06-24" @default.
- W1990281384 creator A5078458093 @default.
- W1990281384 creator A5090334614 @default.
- W1990281384 date "1998-11-01" @default.
- W1990281384 modified "2023-09-26" @default.
- W1990281384 title "A new lower bound on approximability of the ground state problem for tridimensional Ising spin glasses" @default.
- W1990281384 cites W1509587667 @default.
- W1990281384 cites W1967084746 @default.
- W1990281384 cites W197500047 @default.
- W1990281384 cites W2001258377 @default.
- W1990281384 cites W2004618348 @default.
- W1990281384 cites W2013520638 @default.
- W1990281384 cites W2014111643 @default.
- W1990281384 cites W2015101476 @default.
- W1990281384 cites W2038225707 @default.
- W1990281384 cites W2046005237 @default.
- W1990281384 cites W2062560144 @default.
- W1990281384 cites W2081853388 @default.
- W1990281384 doi "https://doi.org/10.1016/s0020-0190(98)00157-4" @default.
- W1990281384 hasPublicationYear "1998" @default.
- W1990281384 type Work @default.
- W1990281384 sameAs 1990281384 @default.
- W1990281384 citedByCount "0" @default.
- W1990281384 crossrefType "journal-article" @default.
- W1990281384 hasAuthorship W1990281384A5078458093 @default.
- W1990281384 hasAuthorship W1990281384A5090334614 @default.
- W1990281384 hasConcept C104317684 @default.
- W1990281384 hasConcept C2777630245 @default.
- W1990281384 hasConcept C2779063550 @default.
- W1990281384 hasConcept C2780673598 @default.
- W1990281384 hasConcept C3020422209 @default.
- W1990281384 hasConcept C54355233 @default.
- W1990281384 hasConcept C71924100 @default.
- W1990281384 hasConcept C86803240 @default.
- W1990281384 hasConceptScore W1990281384C104317684 @default.
- W1990281384 hasConceptScore W1990281384C2777630245 @default.
- W1990281384 hasConceptScore W1990281384C2779063550 @default.
- W1990281384 hasConceptScore W1990281384C2780673598 @default.
- W1990281384 hasConceptScore W1990281384C3020422209 @default.
- W1990281384 hasConceptScore W1990281384C54355233 @default.
- W1990281384 hasConceptScore W1990281384C71924100 @default.
- W1990281384 hasConceptScore W1990281384C86803240 @default.
- W1990281384 hasIssue "4" @default.
- W1990281384 hasLocation W19902813841 @default.
- W1990281384 hasOpenAccess W1990281384 @default.
- W1990281384 hasPrimaryLocation W19902813841 @default.
- W1990281384 hasRelatedWork W2108344726 @default.
- W1990281384 hasRelatedWork W2111640453 @default.
- W1990281384 hasRelatedWork W2119570495 @default.
- W1990281384 hasRelatedWork W2156560798 @default.
- W1990281384 hasRelatedWork W2321132117 @default.
- W1990281384 hasRelatedWork W2586752588 @default.
- W1990281384 hasRelatedWork W3004197233 @default.
- W1990281384 hasRelatedWork W3157833711 @default.
- W1990281384 hasRelatedWork W4220801158 @default.
- W1990281384 hasRelatedWork W4381848311 @default.
- W1990281384 hasVolume "68" @default.
- W1990281384 isParatext "false" @default.
- W1990281384 isRetracted "false" @default.
- W1990281384 magId "1990281384" @default.
- W1990281384 workType "article" @default.