FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2463118853> ?p ?o ?g. }

• W2463118853 endingPage "e0158692" @default.
• W2463118853 startingPage "e0158692" @default.
• W2463118853 abstract "Inherited retinal dystrophies (IRDs) are Mendelian diseases with tremendous genetic and phenotypic heterogeneity. Identification of the underlying genetic basis of these dystrophies is therefore challenging. In this study we employed whole exome sequencing (WES) in 11 families with IRDs and identified disease-causing variants in 8 of them. Sequence analysis of about 250 IRD-associated genes revealed 3 previously reported disease-associated variants in RHO, BEST1 and RP1. We further identified 5 novel pathogenic variants in RPGRIP1 (p.Ser964Profs*37), PRPF8 (p.Tyr2334Leufs*51), CDHR1 (p.Pro133Arg and c.439-17G>A) and PRPF31 (p.Glu183_Met193dup). In addition to confirming the power of WES in genetic diagnosis of IRDs, we document challenges in data analysis and show cases where the underlying genetic causes of IRDs were missed by WES and required additional techniques. For example, the mutation c.439-17G>A in CDHR1 would be rated unlikely applying the standard WES analysis. Only transcript analysis in patient fibroblasts confirmed the pathogenic nature of this variant that affected splicing of CDHR1 by activating a cryptic splice-acceptor site. In another example, a 33-base pair duplication in PRPF31 missed by WES could be identified only via targeted analysis by Sanger sequencing. We discuss the advantages and challenges of using WES to identify mutations in heterogeneous diseases like IRDs." @default.
• W2463118853 created "2016-07-22" @default.
• W2463118853 creator A5012760289 @default.
• W2463118853 creator A5042630628 @default.
• W2463118853 creator A5055323325 @default.
• W2463118853 creator A5057527149 @default.
• W2463118853 creator A5059817634 @default.
• W2463118853 creator A5070325962 @default.
• W2463118853 creator A5073069761 @default.
• W2463118853 creator A5078248666 @default.
• W2463118853 creator A5091185806 @default.
• W2463118853 date "2016-07-08" @default.
• W2463118853 modified "2023-10-03" @default.
• W2463118853 title "Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations" @default.
• W2463118853 cites W1190130989 @default.
• W2463118853 cites W1590466373 @default.
• W2463118853 cites W1592569150 @default.
• W2463118853 cites W1968076268 @default.
• W2463118853 cites W1970413157 @default.
• W2463118853 cites W1976867041 @default.
• W2463118853 cites W1980740976 @default.
• W2463118853 cites W1984017781 @default.
• W2463118853 cites W1984068087 @default.
• W2463118853 cites W1997760441 @default.
• W2463118853 cites W1998533469 @default.
• W2463118853 cites W2001545941 @default.
• W2463118853 cites W2012444311 @default.
• W2463118853 cites W2031043210 @default.
• W2463118853 cites W2035392880 @default.
• W2463118853 cites W2036764180 @default.
• W2463118853 cites W2037312364 @default.
• W2463118853 cites W2039527297 @default.
• W2463118853 cites W2045142794 @default.
• W2463118853 cites W2047460000 @default.
• W2463118853 cites W2051705116 @default.
• W2463118853 cites W2059145105 @default.
• W2463118853 cites W2089192839 @default.
• W2463118853 cites W2094350388 @default.
• W2463118853 cites W2099563339 @default.
• W2463118853 cites W2103376319 @default.
• W2463118853 cites W2103441770 @default.
• W2463118853 cites W2108234281 @default.
• W2463118853 cites W2119374840 @default.
• W2463118853 cites W2125356853 @default.
• W2463118853 cites W2131541488 @default.
• W2463118853 cites W2132752562 @default.
• W2463118853 cites W2136267657 @default.
• W2463118853 cites W2154826595 @default.
• W2463118853 cites W2162098634 @default.
• W2463118853 cites W2163721943 @default.
• W2463118853 cites W2297749042 @default.
• W2463118853 cites W2368623011 @default.
• W2463118853 cites W2419292400 @default.
• W2463118853 cites W6164871 @default.
• W2463118853 cites W773010923 @default.
• W2463118853 doi "https://doi.org/10.1371/journal.pone.0158692" @default.
• W2463118853 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4938416" @default.
• W2463118853 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27391102" @default.
• W2463118853 hasPublicationYear "2016" @default.
• W2463118853 type Work @default.
• W2463118853 sameAs 2463118853 @default.
• W2463118853 citedByCount "20" @default.
• W2463118853 countsByYear W24631188532017 @default.
• W2463118853 countsByYear W24631188532018 @default.
• W2463118853 countsByYear W24631188532020 @default.
• W2463118853 countsByYear W24631188532021 @default.
• W2463118853 countsByYear W24631188532022 @default.
• W2463118853 countsByYear W24631188532023 @default.
• W2463118853 crossrefType "journal-article" @default.
• W2463118853 hasAuthorship W2463118853A5012760289 @default.
• W2463118853 hasAuthorship W2463118853A5042630628 @default.
• W2463118853 hasAuthorship W2463118853A5055323325 @default.
• W2463118853 hasAuthorship W2463118853A5057527149 @default.
• W2463118853 hasAuthorship W2463118853A5059817634 @default.
• W2463118853 hasAuthorship W2463118853A5070325962 @default.
• W2463118853 hasAuthorship W2463118853A5073069761 @default.
• W2463118853 hasAuthorship W2463118853A5078248666 @default.
• W2463118853 hasAuthorship W2463118853A5091185806 @default.
• W2463118853 hasBestOaLocation W24631188531 @default.
• W2463118853 hasConcept C104317684 @default.
• W2463118853 hasConcept C10590036 @default.
• W2463118853 hasConcept C116834253 @default.
• W2463118853 hasConcept C127716648 @default.
• W2463118853 hasConcept C16671776 @default.
• W2463118853 hasConcept C2780989783 @default.
• W2463118853 hasConcept C501734568 @default.
• W2463118853 hasConcept C54355233 @default.
• W2463118853 hasConcept C54458228 @default.
• W2463118853 hasConcept C59822182 @default.
• W2463118853 hasConcept C64618202 @default.
• W2463118853 hasConcept C67705224 @default.
• W2463118853 hasConcept C70721500 @default.
• W2463118853 hasConcept C76818968 @default.
• W2463118853 hasConcept C86803240 @default.
• W2463118853 hasConceptScore W2463118853C104317684 @default.
• W2463118853 hasConceptScore W2463118853C10590036 @default.
• W2463118853 hasConceptScore W2463118853C116834253 @default.
• W2463118853 hasConceptScore W2463118853C127716648 @default.

• next