FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3191836161> ?p ?o ?g. }

• W3191836161 endingPage "367" @default.
• W3191836161 startingPage "359" @default.
• W3191836161 abstract "Abstract Neonates with genetic disorders or congenital anomalies (CA) contribute considerably to morbidity and mortality in neonatal intensive care units (NICUs). The objective of this study is to study the prevalence of genetic disorders in an academic level IV NICU. We retrospective collected and analyzed both clinical and genetic data of all 1444 infants admitted to the NICU of the Radboudumc (October 2013 to October 2015). Data were collected until infants reached at least 2 years of age. A total of 13% (194/1444) of the patients were genetically tested, and 32% (461/1444) had a CA. A total of 37% (72/194) had a laboratory-confirmed genetic diagnosis. In 53%, the diagnosis was made post-neonatally (median age = 209 days) using assays including exome sequencing. Exactly 63% (291/461) of the patients with CA, however, never received genetic testing, despite being clinically similar those who did. Conclusions : Genetic disorders were suspected in 13% of the cohort, but only confirmed in 5%. Most received their genetic diagnosis in the post-neonatal period. Extrapolation of the diagnostic yield suggests that up to 6% of our cohort may have remained genetically undiagnosed. Our data show the need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management. What is Known: • Genetic disorders are suspected in many neonates but only genetically confirmed in a minority. • The presence of a genetic disorder can be easily missed and will often lead to a diagnostic odyssey requiring extensive evaluations, both clinically and genetically. What is New: • Different aspects of the clinical features and uptake of genetic test in a NICU cohort. • The need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management." @default.
• W3191836161 created "2021-08-16" @default.
• W3191836161 creator A5032096648 @default.
• W3191836161 creator A5047817640 @default.
• W3191836161 creator A5048849902 @default.
• W3191836161 creator A5051525862 @default.
• W3191836161 creator A5061752058 @default.
• W3191836161 creator A5089129794 @default.
• W3191836161 date "2021-08-04" @default.
• W3191836161 modified "2023-09-26" @default.
• W3191836161 title "Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study" @default.
• W3191836161 cites W1969600342 @default.
• W3191836161 cites W1997232458 @default.
• W3191836161 cites W1997523936 @default.
• W3191836161 cites W2018071662 @default.
• W3191836161 cites W2036680717 @default.
• W3191836161 cites W2084865826 @default.
• W3191836161 cites W2100772802 @default.
• W3191836161 cites W2101305463 @default.
• W3191836161 cites W2110921888 @default.
• W3191836161 cites W2168670952 @default.
• W3191836161 cites W2265992920 @default.
• W3191836161 cites W2291038846 @default.
• W3191836161 cites W2407404038 @default.
• W3191836161 cites W2557385283 @default.
• W3191836161 cites W2613393193 @default.
• W3191836161 cites W2762508685 @default.
• W3191836161 cites W2781534540 @default.
• W3191836161 cites W2797178594 @default.
• W3191836161 cites W2888380715 @default.
• W3191836161 cites W2949506289 @default.
• W3191836161 cites W2954187028 @default.
• W3191836161 cites W2991592709 @default.
• W3191836161 cites W3019341832 @default.
• W3191836161 doi "https://doi.org/10.1007/s00431-021-04213-w" @default.
• W3191836161 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34347148" @default.
• W3191836161 hasPublicationYear "2021" @default.
• W3191836161 type Work @default.
• W3191836161 sameAs 3191836161 @default.
• W3191836161 citedByCount "3" @default.
• W3191836161 countsByYear W31918361612022 @default.
• W3191836161 countsByYear W31918361612023 @default.
• W3191836161 crossrefType "journal-article" @default.
• W3191836161 hasAuthorship W3191836161A5032096648 @default.
• W3191836161 hasAuthorship W3191836161A5047817640 @default.
• W3191836161 hasAuthorship W3191836161A5048849902 @default.
• W3191836161 hasAuthorship W3191836161A5051525862 @default.
• W3191836161 hasAuthorship W3191836161A5061752058 @default.
• W3191836161 hasAuthorship W3191836161A5089129794 @default.
• W3191836161 hasBestOaLocation W31918361611 @default.
• W3191836161 hasConcept C104317684 @default.
• W3191836161 hasConcept C126322002 @default.
• W3191836161 hasConcept C16671776 @default.
• W3191836161 hasConcept C167135981 @default.
• W3191836161 hasConcept C177713679 @default.
• W3191836161 hasConcept C187212893 @default.
• W3191836161 hasConcept C201903717 @default.
• W3191836161 hasConcept C2778908642 @default.
• W3191836161 hasConcept C2779134260 @default.
• W3191836161 hasConcept C2780673598 @default.
• W3191836161 hasConcept C2987404301 @default.
• W3191836161 hasConcept C2993153387 @default.
• W3191836161 hasConcept C501734568 @default.
• W3191836161 hasConcept C54355233 @default.
• W3191836161 hasConcept C71924100 @default.
• W3191836161 hasConcept C72563966 @default.
• W3191836161 hasConcept C86803240 @default.
• W3191836161 hasConceptScore W3191836161C104317684 @default.
• W3191836161 hasConceptScore W3191836161C126322002 @default.
• W3191836161 hasConceptScore W3191836161C16671776 @default.
• W3191836161 hasConceptScore W3191836161C167135981 @default.
• W3191836161 hasConceptScore W3191836161C177713679 @default.
• W3191836161 hasConceptScore W3191836161C187212893 @default.
• W3191836161 hasConceptScore W3191836161C201903717 @default.
• W3191836161 hasConceptScore W3191836161C2778908642 @default.
• W3191836161 hasConceptScore W3191836161C2779134260 @default.
• W3191836161 hasConceptScore W3191836161C2780673598 @default.
• W3191836161 hasConceptScore W3191836161C2987404301 @default.
• W3191836161 hasConceptScore W3191836161C2993153387 @default.
• W3191836161 hasConceptScore W3191836161C501734568 @default.
• W3191836161 hasConceptScore W3191836161C54355233 @default.
• W3191836161 hasConceptScore W3191836161C71924100 @default.
• W3191836161 hasConceptScore W3191836161C72563966 @default.
• W3191836161 hasConceptScore W3191836161C86803240 @default.
• W3191836161 hasIssue "1" @default.
• W3191836161 hasLocation W31918361611 @default.
• W3191836161 hasLocation W31918361612 @default.
• W3191836161 hasLocation W31918361613 @default.
• W3191836161 hasOpenAccess W3191836161 @default.
• W3191836161 hasPrimaryLocation W31918361611 @default.
• W3191836161 hasRelatedWork W2797178594 @default.
• W3191836161 hasRelatedWork W2893202101 @default.
• W3191836161 hasRelatedWork W2997453358 @default.
• W3191836161 hasRelatedWork W3020616536 @default.
• W3191836161 hasRelatedWork W3184187043 @default.
• W3191836161 hasRelatedWork W3191836161 @default.
• W3191836161 hasRelatedWork W4289523430 @default.
• W3191836161 hasRelatedWork W4299878890 @default.

• next