Article

Role of Next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder

2023-09-22

Abstract excerpt

<title>Abstract</title> <p>Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is little data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of paediatric patients with a suspected genetic disorder requiring critical care. We analyzed 70 children with an illness req...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b200aa22-798c-583a-b603-c96b3162607b
DOI: 10.21203/rs.3.rs-3220389/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Role of Next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorderDOI 10.21203/rs.3.rs-3220389/v1Read

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.Semantic proximity Read

Rapid Exome Sequencing for Critically Ill Children: Implementation and Challenges in the Asian ContextSemantic proximity Read

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.Semantic proximity Read

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infantSemantic proximity Read

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill childrenSemantic proximity Read

Rapid genome sequencing for critically ill infants: an inaugural pilot study from TurkeySemantic proximity Read

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Semantic proximity Read

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a reviewSemantic proximity Read

Rapid Targeted Genomics in Critically Ill Newborns.Semantic proximity Read

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infantsSemantic proximity Read

Use of Exome Sequencing for Infants in Intensive Care UnitsSemantic proximity Read

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditionsSemantic proximity Read