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

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.

International journal of molecular sciences - 18 Jan 2026

Mancuso Giancarlo, Serventi Laura, Cocco Chiara, Lai Francesco, Soddu Consolata, Marica Monica, Mereu Caterina, Lorrai Michela, Tosone Gaia Maria, Cannas Federica, Nutile Giulia, Floris Matteo, Savasta Salvatore, Giglio Sabrina

Abstract excerpt

Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions characterised by impairments in cognition, motor function, behaviour, and social interaction. Their genetic basis is highly diverse, and next-generation sequencing has become central to improving diagnostic yield. We retrospectively analysed 94 paediatric patients (0-18 years) with NDDs referred to the Paediatric and Rare Diseases Clinic,...

Topics

Join the communities discussing this publication.

Adolescent
Child
Child, Preschool
Exome Sequencing
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Neurodevelopmental Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 41596607
DOI: 10.3390/ijms27020964
PMCID: PMC12842178

Genes

CAST

Provenance

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

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

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.PMID 41596607Read ↗

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

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.Semantic 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 ↗

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patientsSemantic proximity Read ↗

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.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 ↗

Genomic diagnosis for children with intellectual disability and/or developmental delaySemantic proximity Read ↗

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental DelaySemantic proximity Read ↗

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort studySemantic proximity Read ↗

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Semantic proximity Read ↗

Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental DisordersSemantic proximity Read ↗

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