FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2885830105> ?p ?o ?g. }

• W2885830105 endingPage "1809" @default.
• W2885830105 startingPage "1797" @default.
• W2885830105 abstract "Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the literature or functional studies are pursued. WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephalocele, or Joubert-related disorder, identified compound heterozygous variants in C2CD3. Biallelic variants in C2CD3 have previously been associated with ciliopathies, including OFD syndrome type 14 (OFD14; MIM: 615948). As three of the six identified variants were predicted to affect splicing, exon-skipping analysis using either RNA sequencing or PCR-based methods were completed to determine the pathogenicity of these variants, and showed that each of the splicing variants led to a frameshifted protein product. Using these studies in combination with the 2015 ACMG guidelines, each of the six identified variants were classified as either pathogenic or likely pathogenic, and are therefore likely responsible for our patients' phenotypes. Each of the families had a distinct clinical phenotype and severity of disease, extending from lethal to viable. These findings highlight that there is a broad phenotypic spectrum associated with C2CD3-mediated disease and not all patients present with the typical features of OFD14." @default.
• W2885830105 created "2018-08-22" @default.
• W2885830105 creator A5002238355 @default.
• W2885830105 creator A5007802086 @default.
• W2885830105 creator A5010873407 @default.
• W2885830105 creator A5012462973 @default.
• W2885830105 creator A5030354848 @default.
• W2885830105 creator A5036667151 @default.
• W2885830105 creator A5040401945 @default.
• W2885830105 creator A5041882550 @default.
• W2885830105 creator A5044058635 @default.
• W2885830105 creator A5044404099 @default.
• W2885830105 creator A5044963380 @default.
• W2885830105 creator A5056815195 @default.
• W2885830105 creator A5061683588 @default.
• W2885830105 creator A5065352274 @default.
• W2885830105 creator A5081715355 @default.
• W2885830105 date "2018-08-10" @default.
• W2885830105 modified "2023-10-14" @default.
• W2885830105 title "Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants" @default.
• W2885830105 cites W1513515886 @default.
• W2885830105 cites W1980740976 @default.
• W2885830105 cites W2034691490 @default.
• W2885830105 cites W2048868499 @default.
• W2885830105 cites W2056967728 @default.
• W2885830105 cites W2059145105 @default.
• W2885830105 cites W2062460123 @default.
• W2885830105 cites W2076357933 @default.
• W2885830105 cites W2077712321 @default.
• W2885830105 cites W2080214271 @default.
• W2885830105 cites W2097108905 @default.
• W2885830105 cites W2110400205 @default.
• W2885830105 cites W2121114391 @default.
• W2885830105 cites W2124846611 @default.
• W2885830105 cites W2130859431 @default.
• W2885830105 cites W2132123037 @default.
• W2885830105 cites W2132752562 @default.
• W2885830105 cites W2134513968 @default.
• W2885830105 cites W2134526812 @default.
• W2885830105 cites W2136430672 @default.
• W2885830105 cites W2140729960 @default.
• W2885830105 cites W2153486502 @default.
• W2885830105 cites W2268895451 @default.
• W2885830105 cites W2339271657 @default.
• W2885830105 cites W2596488039 @default.
• W2885830105 cites W4210952482 @default.
• W2885830105 cites W4247292500 @default.
• W2885830105 doi "https://doi.org/10.1038/s41431-018-0222-3" @default.
• W2885830105 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6244354" @default.
• W2885830105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30097616" @default.
• W2885830105 hasPublicationYear "2018" @default.
• W2885830105 type Work @default.
• W2885830105 sameAs 2885830105 @default.
• W2885830105 citedByCount "18" @default.
• W2885830105 countsByYear W28858301052019 @default.
• W2885830105 countsByYear W28858301052020 @default.
• W2885830105 countsByYear W28858301052021 @default.
• W2885830105 countsByYear W28858301052022 @default.
• W2885830105 countsByYear W28858301052023 @default.
• W2885830105 crossrefType "journal-article" @default.
• W2885830105 hasAuthorship W2885830105A5002238355 @default.
• W2885830105 hasAuthorship W2885830105A5007802086 @default.
• W2885830105 hasAuthorship W2885830105A5010873407 @default.
• W2885830105 hasAuthorship W2885830105A5012462973 @default.
• W2885830105 hasAuthorship W2885830105A5030354848 @default.
• W2885830105 hasAuthorship W2885830105A5036667151 @default.
• W2885830105 hasAuthorship W2885830105A5040401945 @default.
• W2885830105 hasAuthorship W2885830105A5041882550 @default.
• W2885830105 hasAuthorship W2885830105A5044058635 @default.
• W2885830105 hasAuthorship W2885830105A5044404099 @default.
• W2885830105 hasAuthorship W2885830105A5044963380 @default.
• W2885830105 hasAuthorship W2885830105A5056815195 @default.
• W2885830105 hasAuthorship W2885830105A5061683588 @default.
• W2885830105 hasAuthorship W2885830105A5065352274 @default.
• W2885830105 hasAuthorship W2885830105A5081715355 @default.
• W2885830105 hasBestOaLocation W28858301051 @default.
• W2885830105 hasConcept C100094513 @default.
• W2885830105 hasConcept C104317684 @default.
• W2885830105 hasConcept C10590036 @default.
• W2885830105 hasConcept C127716648 @default.
• W2885830105 hasConcept C16671776 @default.
• W2885830105 hasConcept C2777386794 @default.
• W2885830105 hasConcept C2780561973 @default.
• W2885830105 hasConcept C2910395002 @default.
• W2885830105 hasConcept C54355233 @default.
• W2885830105 hasConcept C60644358 @default.
• W2885830105 hasConcept C64474127 @default.
• W2885830105 hasConcept C86803240 @default.
• W2885830105 hasConceptScore W2885830105C100094513 @default.
• W2885830105 hasConceptScore W2885830105C104317684 @default.
• W2885830105 hasConceptScore W2885830105C10590036 @default.
• W2885830105 hasConceptScore W2885830105C127716648 @default.
• W2885830105 hasConceptScore W2885830105C16671776 @default.
• W2885830105 hasConceptScore W2885830105C2777386794 @default.
• W2885830105 hasConceptScore W2885830105C2780561973 @default.
• W2885830105 hasConceptScore W2885830105C2910395002 @default.
• W2885830105 hasConceptScore W2885830105C54355233 @default.
• W2885830105 hasConceptScore W2885830105C60644358 @default.

• next