FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3123627099> ?p ?o ?g. }

• W3123627099 endingPage "278" @default.
• W3123627099 startingPage "270" @default.
• W3123627099 abstract "Background Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted. Methods We analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions. Results Among the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other cases (9%; 7/76). Four individuals had a diagnosis of Kabuki syndrome caused by frameshift variants in KMT2D . Putatively deleterious variants in ALG12 and EP300 were each found in two individuals, supporting their role in CDH development. We also identified individuals with de novo pathogenic variants in FOXP1 and SMARCA4 , and compound heterozygous pathogenic variants in BRCA2 . The role of these genes in CDH development is supported by the expression of their mouse homologs in the developing diaphragm, their high CDH-specific pathogenicity scores generated using a previously validated algorithm for genome-scale knowledge synthesis and previously published case reports. Conclusion We conclude that ES should be ordered in cases of CDH+ when a specific diagnosis is not suspected and CNV analyses are negative. Our results also provide evidence in favour of phenotypic expansions involving CDH for genes associated with ALG12 -congenital disorder of glycosylation, Rubinstein-Taybi syndrome, Fanconi anaemia, Coffin-Siris syndrome and FOXP1 -related disorders." @default.
• W3123627099 created "2021-02-01" @default.
• W3123627099 creator A5022934107 @default.
• W3123627099 creator A5031935784 @default.
• W3123627099 creator A5033405102 @default.
• W3123627099 creator A5045052471 @default.
• W3123627099 creator A5070762803 @default.
• W3123627099 creator A5072387201 @default.
• W3123627099 creator A5085873463 @default.
• W3123627099 creator A5086746796 @default.
• W3123627099 date "2021-01-18" @default.
• W3123627099 modified "2023-10-01" @default.
• W3123627099 title "Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH" @default.
• W3123627099 cites W137918631 @default.
• W3123627099 cites W1978385061 @default.
• W3123627099 cites W1984849799 @default.
• W3123627099 cites W1990598867 @default.
• W3123627099 cites W1998039114 @default.
• W3123627099 cites W2008437609 @default.
• W3123627099 cites W2010679681 @default.
• W3123627099 cites W2017461303 @default.
• W3123627099 cites W2031381162 @default.
• W3123627099 cites W2042122059 @default.
• W3123627099 cites W2051978340 @default.
• W3123627099 cites W2056615811 @default.
• W3123627099 cites W2067800371 @default.
• W3123627099 cites W2072551301 @default.
• W3123627099 cites W2078930878 @default.
• W3123627099 cites W2104191615 @default.
• W3123627099 cites W2105213373 @default.
• W3123627099 cites W2115182209 @default.
• W3123627099 cites W2121665346 @default.
• W3123627099 cites W2123908437 @default.
• W3123627099 cites W2127121356 @default.
• W3123627099 cites W2128265565 @default.
• W3123627099 cites W2129640164 @default.
• W3123627099 cites W2130888576 @default.
• W3123627099 cites W2132779188 @default.
• W3123627099 cites W2138096388 @default.
• W3123627099 cites W2145215854 @default.
• W3123627099 cites W2461885092 @default.
• W3123627099 cites W2521487197 @default.
• W3123627099 cites W2560700777 @default.
• W3123627099 cites W2596744052 @default.
• W3123627099 cites W2764272289 @default.
• W3123627099 cites W2793512195 @default.
• W3123627099 cites W2795257909 @default.
• W3123627099 cites W2803981047 @default.
• W3123627099 cites W2807099253 @default.
• W3123627099 cites W2897608053 @default.
• W3123627099 cites W2905150311 @default.
• W3123627099 cites W2943900631 @default.
• W3123627099 cites W2957472646 @default.
• W3123627099 cites W2966594216 @default.
• W3123627099 cites W4294856026 @default.
• W3123627099 cites W872834945 @default.
• W3123627099 doi "https://doi.org/10.1136/jmedgenet-2020-107317" @default.
• W3123627099 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8286264" @default.
• W3123627099 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33461977" @default.
• W3123627099 hasPublicationYear "2021" @default.
• W3123627099 type Work @default.
• W3123627099 sameAs 3123627099 @default.
• W3123627099 citedByCount "22" @default.
• W3123627099 countsByYear W31236270992021 @default.
• W3123627099 countsByYear W31236270992022 @default.
• W3123627099 countsByYear W31236270992023 @default.
• W3123627099 crossrefType "journal-article" @default.
• W3123627099 hasAuthorship W3123627099A5022934107 @default.
• W3123627099 hasAuthorship W3123627099A5031935784 @default.
• W3123627099 hasAuthorship W3123627099A5033405102 @default.
• W3123627099 hasAuthorship W3123627099A5045052471 @default.
• W3123627099 hasAuthorship W3123627099A5070762803 @default.
• W3123627099 hasAuthorship W3123627099A5072387201 @default.
• W3123627099 hasAuthorship W3123627099A5085873463 @default.
• W3123627099 hasAuthorship W3123627099A5086746796 @default.
• W3123627099 hasBestOaLocation W31236270992 @default.
• W3123627099 hasConcept C104317684 @default.
• W3123627099 hasConcept C10590036 @default.
• W3123627099 hasConcept C12125453 @default.
• W3123627099 hasConcept C127716648 @default.
• W3123627099 hasConcept C16671776 @default.
• W3123627099 hasConcept C172680121 @default.
• W3123627099 hasConcept C2776672705 @default.
• W3123627099 hasConcept C2777146472 @default.
• W3123627099 hasConcept C2779234561 @default.
• W3123627099 hasConcept C2780673598 @default.
• W3123627099 hasConcept C29906990 @default.
• W3123627099 hasConcept C54355233 @default.
• W3123627099 hasConcept C71924100 @default.
• W3123627099 hasConcept C86803240 @default.
• W3123627099 hasConceptScore W3123627099C104317684 @default.
• W3123627099 hasConceptScore W3123627099C10590036 @default.
• W3123627099 hasConceptScore W3123627099C12125453 @default.
• W3123627099 hasConceptScore W3123627099C127716648 @default.
• W3123627099 hasConceptScore W3123627099C16671776 @default.
• W3123627099 hasConceptScore W3123627099C172680121 @default.
• W3123627099 hasConceptScore W3123627099C2776672705 @default.
• W3123627099 hasConceptScore W3123627099C2777146472 @default.

• next