Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Use of Exome Sequencing for Infants in Intensive Care Units

3 Oct 2017

Abstract excerpt

Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within...

Source

Identifiers

PMID: 28973083
DOI: 10.1001/jamapediatrics.2017.3438

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Use of Exome Sequencing for Infants in Intensive Care UnitsPMID 28973083Read ↗

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

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

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

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

Rapid Whole Genome Sequencing Decreases Morbidity and Healthcare Cost of Hospitalized InfantsSemantic proximity Read ↗

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.Semantic proximity Read ↗

The NSIGHT1 Randomized Controlled Trial: Rapid Whole Genome Sequencing for Accelerated Etiologic Diagnosis in Critically Ill InfantsSemantic proximity Read ↗

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studySemantic proximity Read ↗

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluationSemantic proximity Read ↗

Clinical and Molecular Findings in Early Infant Death Associated with Genetic Diseases: A Multicenter Cohort Study in ChinaSemantic proximity Read ↗

Integrating rapid exome sequencing into NICU clinical care after a pilot research studySemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.