Evidence map›Paper›PMID 41596607›Full record

ArticleInternational journal of molecular sciences2026

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

Giancarlo Mancuso, Laura Serventi, Chiara Cocco, Francesco Lai, Consolata Soddu, Monica Marica, Caterina Mereu, Michela Lorrai, Gaia Maria Tosone, Federica Cannas and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Giancarlo MancusoMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0009-0004-4969-1321
Laura ServentiMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Chiara CoccoMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Francesco LaiPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Consolata SodduPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Monica MaricaPediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", ASL 8 Cagliari, 09121 Cagliari, Italy.
Caterina MereuMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0009-0006-2588-6807
Michela LorraiMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0009-0002-6660-1784
Gaia Maria TosoneMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Federica CannasCentre for Research University Services (CeSAR, Centro Servizi di Ateneo per la Ricerca), University of Cagliari, 09124 Cagliari, Italy.
Giulia NutileMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Matteo FlorisDepartment of Biomedical Sciences, University of Sassari, 07100 Sassari, Italy.ORCID 0000-0003-4385-9336
Salvatore SavastaPediatric Clinic and Rare Diseases, Microcitemico Hospital, Department of Medical Science and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Sabrina GiglioMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.ORCID 0000-0002-3954-326X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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, Microcitemico Hospital "A. Cao," between January 2019 and July 2024. Each patient underwent detailed clinical evaluation and whole-exome sequencing (WES). Variants were prioritised according to ACMG guidelines. Gene burden analysis of rare predicted loss-of-function variants was performed using the Cohort Allelic Sums Test to detect enrichment in NDD cases relative to controls. WES identified 12 pathogenic variants, 16 likely pathogenic variants, and 10 variants of uncertain significance. Autosomal dominant disorders were the most frequent (

Indexed as

Exome SequencingGenetic Predisposition to DiseaseGenetic VariationNeurodevelopmental DisordersAdolescentChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleRetrospective Studiesgene burden analysisneurodevelopmental disorderswhole exome sequencing

Identifiers

PMID41596607
PMCPMC12842178

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