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

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

PloS one - 1 Jan 2023

Triono Agung, Iskandar Kristy, Hadiyanto Marissa Leviani, Nugrahanto Andika Priamas, Diantika Kania, Wijayanti Veronica Wulan, Herini Elisabeth Siti

Abstract excerpt

BACKGROUND: Neurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options. Whole-Exome Sequencing (WES) can rapidly discover the genetic basis in NGDs. OBJECTIVE: The purpose of this study was to assess the WES results and its value in...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Indonesia

Share to Infant

Share to Infant, Newborn

Share to Nuclear Proteins

Share to Tertiary Care Centers

Source

Open in PubMed Open full text

Identifiers

PMID: 37878632
DOI: 10.1371/journal.pone.0293113
PMCID: PMC10599538

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.PMID 37878632Read ↗

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern ChinaSemantic proximity Read ↗

Clinical and Genetic Spectrum of Dual Rare Genetic Diseases Revealed by Whole-Exome Sequencing in 14 Pediatric PatientsSemantic proximity Read ↗

Clinical use of whole exome sequencing in children with developmental delay/intellectual disabilitySemantic proximity Read ↗

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individualsSemantic proximity Read ↗

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing GuidelinesSemantic proximity Read ↗

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.Semantic proximity Read ↗

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Semantic proximity Read ↗

Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.Semantic proximity Read ↗

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disordersSemantic proximity Read ↗

Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.Semantic proximity Read ↗

Assessing utility of clinical exome sequencing in diagnosis of rare idiopathic neurodevelopmental disorders in Indian populationSemantic proximity Read ↗

Utility of Whole-Exome Sequencing in Pediatric and Medical DiagnosisSemantic proximity Read ↗

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