FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387461103> ?p ?o ?g. }

• W4387461103 endingPage "109329" @default.
• W4387461103 startingPage "jmg" @default.
• W4387461103 abstract "Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos syndrome (hEDS) remains unknown. Methods Whole exome sequencing (WES) was undertaken on 174 EDS patients recruited from a national diagnostic service for complex EDS and a specialist clinic for hEDS. Patients had already undergone expert phenotyping, laboratory investigation and gene sequencing, but were without a genetic diagnosis. Filtered WES data were reviewed for genes underlying Mendelian disorders and loci reported in EDS linkage, transcriptome and genome-wide association studies (GWAS). A genetic burden analysis (Minor Allele Frequency (MAF) <0.05) incorporating 248 Avon Longitudinal Study of Parents and Children (ALSPAC) controls sequenced as part of the UK10K study was undertaken using TASER methodology. Results Heterozygous pathogenic (P) or likely pathogenic (LP) variants were identified in known EDS and Loeys-Dietz (LDS) genes. Multiple variants of uncertain significance where segregation and functional analysis may enable reclassification were found in genes associated with EDS, LDS, heritable thoracic aortic disease (HTAD), Mendelian disorders with EDS symptomatology and syndromes with EDS-like features. Genetic burden analysis revealed a number of novel loci, although none reached the threshold for genome-wide significance. Variants with biological plausibility were found in genes and pathways not currently associated with EDS or HTAD. Conclusions We demonstrate the clinical utility of large panel-based sequencing and WES for patients with complex EDS in distinguishing rare EDS subtypes, LDS and related syndromes. Although many of the P and LP variants reported in this cohort would be identified with current panel testing, they were not at the time of this study, highlighting the use of extended panels and WES as a clinical tool for complex EDS. Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel hEDS and HTAD candidate genes and pathways." @default.
• W4387461103 created "2023-10-10" @default.
• W4387461103 creator A5013574979 @default.
• W4387461103 creator A5018307818 @default.
• W4387461103 creator A5019324636 @default.
• W4387461103 creator A5027521522 @default.
• W4387461103 creator A5028131505 @default.
• W4387461103 creator A5029856752 @default.
• W4387461103 creator A5043902224 @default.
• W4387461103 creator A5044469761 @default.
• W4387461103 creator A5054711292 @default.
• W4387461103 creator A5055366559 @default.
• W4387461103 creator A5057145376 @default.
• W4387461103 creator A5075972128 @default.
• W4387461103 creator A5080389454 @default.
• W4387461103 creator A5081520656 @default.
• W4387461103 creator A5082408868 @default.
• W4387461103 creator A5082919510 @default.
• W4387461103 creator A5087221620 @default.
• W4387461103 creator A5090729186 @default.
• W4387461103 creator A5093029612 @default.
• W4387461103 date "2023-10-09" @default.
• W4387461103 modified "2023-10-15" @default.
• W4387461103 title "Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome" @default.
• W4387461103 cites W1595181805 @default.
• W4387461103 cites W1872610674 @default.
• W4387461103 cites W1907868928 @default.
• W4387461103 cites W1962295039 @default.
• W4387461103 cites W1986333984 @default.
• W4387461103 cites W2020009447 @default.
• W4387461103 cites W2024528666 @default.
• W4387461103 cites W2034854893 @default.
• W4387461103 cites W2044634197 @default.
• W4387461103 cites W2051978340 @default.
• W4387461103 cites W2123263006 @default.
• W4387461103 cites W2123478725 @default.
• W4387461103 cites W2124053142 @default.
• W4387461103 cites W2141876722 @default.
• W4387461103 cites W2153707891 @default.
• W4387461103 cites W2154649258 @default.
• W4387461103 cites W2303782035 @default.
• W4387461103 cites W2330342228 @default.
• W4387461103 cites W2346287086 @default.
• W4387461103 cites W2401811918 @default.
• W4387461103 cites W2412274260 @default.
• W4387461103 cites W2517346827 @default.
• W4387461103 cites W2519621814 @default.
• W4387461103 cites W2520068755 @default.
• W4387461103 cites W2531200591 @default.
• W4387461103 cites W2597004434 @default.
• W4387461103 cites W2618288594 @default.
• W4387461103 cites W2743022239 @default.
• W4387461103 cites W2760821868 @default.
• W4387461103 cites W2765091867 @default.
• W4387461103 cites W2781563686 @default.
• W4387461103 cites W2788360595 @default.
• W4387461103 cites W2899750866 @default.
• W4387461103 cites W2906081523 @default.
• W4387461103 cites W2911525027 @default.
• W4387461103 cites W2911609224 @default.
• W4387461103 cites W2938511637 @default.
• W4387461103 cites W2949857618 @default.
• W4387461103 cites W2950099182 @default.
• W4387461103 cites W2976981631 @default.
• W4387461103 cites W2989233871 @default.
• W4387461103 cites W2990703033 @default.
• W4387461103 cites W2997202359 @default.
• W4387461103 cites W3031294151 @default.
• W4387461103 cites W3035932680 @default.
• W4387461103 cites W3093869410 @default.
• W4387461103 cites W3112251940 @default.
• W4387461103 cites W3127662225 @default.
• W4387461103 cites W4252650885 @default.
• W4387461103 doi "https://doi.org/10.1136/jmg-2023-109329" @default.
• W4387461103 hasPublicationYear "2023" @default.
• W4387461103 type Work @default.
• W4387461103 citedByCount "0" @default.
• W4387461103 crossrefType "journal-article" @default.
• W4387461103 hasAuthorship W4387461103A5013574979 @default.
• W4387461103 hasAuthorship W4387461103A5018307818 @default.
• W4387461103 hasAuthorship W4387461103A5019324636 @default.
• W4387461103 hasAuthorship W4387461103A5027521522 @default.
• W4387461103 hasAuthorship W4387461103A5028131505 @default.
• W4387461103 hasAuthorship W4387461103A5029856752 @default.
• W4387461103 hasAuthorship W4387461103A5043902224 @default.
• W4387461103 hasAuthorship W4387461103A5044469761 @default.
• W4387461103 hasAuthorship W4387461103A5054711292 @default.
• W4387461103 hasAuthorship W4387461103A5055366559 @default.
• W4387461103 hasAuthorship W4387461103A5057145376 @default.
• W4387461103 hasAuthorship W4387461103A5075972128 @default.
• W4387461103 hasAuthorship W4387461103A5080389454 @default.
• W4387461103 hasAuthorship W4387461103A5081520656 @default.
• W4387461103 hasAuthorship W4387461103A5082408868 @default.
• W4387461103 hasAuthorship W4387461103A5082919510 @default.
• W4387461103 hasAuthorship W4387461103A5087221620 @default.
• W4387461103 hasAuthorship W4387461103A5090729186 @default.
• W4387461103 hasAuthorship W4387461103A5093029612 @default.
• W4387461103 hasBestOaLocation W43874611031 @default.

• next