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

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Clinical genetics - 1 Jul 2026

Caramizaru Alexandru, Durac Cristina, Dumitrescu Andreea, Calota-Dobrescu Alexandru, de Becdelièvre Alix, Konyukh Marina, Cassandrini Denise, Lee Hane, Seo Go Hun, Ryu Seung Woo, Cucu Mihai, Dragomir Iuliana Manuela, Catana Andreea, Tajsharghi Homa, Malfatti Edoardo, Burada Florin, Dobrescu Amelia

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a highly diverse group of conditions that manifest through motor, cognitive, and behavioral impairments, representing the most common chronic condition encountered in children. As these often have a genetic cause or component, extensive genetic testing, particularly whole exome sequencing (WES), plays a critical role in their diagnosis, management, and prevention. Here, we...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to Exome Sequencing

Share to Genetic Testing

Share to Infant

Share to Neurodevelopmental Disorders

Share to Romania

Source

Identifiers

PMID: 41842720
DOI: 10.1111/cge.70163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.PMID 41842720Read ↗

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSemantic proximity Read ↗

The frontiers of sequencing in undiagnosed neurodevelopmental diseases.Semantic proximity Read ↗

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

Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the Czech RepublicSemantic proximity Read ↗

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Semantic proximity Read ↗

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersSemantic proximity Read ↗

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

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.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 ↗

Using Exome Sequencing to Identify the Causes of Neurodevelopmental Disorders: Experience of a North African Genetic Center.Semantic proximity Read ↗

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin PopulationSemantic proximity Read ↗

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseasesSemantic proximity Read ↗

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