Discover Community Create You

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

Article

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Dec 2020

Chen Yu-Lan, Zhang You-Xiang, Yang Xiu-Fang, Chen Jian, Li Xiao-Tong, Huang Mu-Hua, Ruan Jing-Wei, Lin Qiang

Abstract excerpt

OBJECTIVE: To study the application value of whole exome sequencing (WES) in critically ill neonates with inherited diseases. METHODS: A total of 66 critically ill neonates with suspected inherited diseases or unclear clinical diagnosis who were admitted to the neonatal intensive care unit were enrolled as subjects. The clinical data of the neonates were collected, and venous blood samples were collected from the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Critical Illness
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Heterozygote

Share to I-kappa B Kinase

Share to Infant, Newborn

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33327995
PMCID: PMC7735930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].PMID 33327995Read ↗

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

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.Semantic proximity Read ↗

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

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

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

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

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

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

Clinical application of whole-exome sequencing: A retrospective, single-center studySemantic proximity Read ↗

Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.Semantic proximity Read ↗

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

Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project.Semantic proximity Read ↗

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