Evidence map›Paper›PMID 42123532›Full record

ArticleInternational journal of molecular sciences2026

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.

Slavica Ostojić, Gordana Kovačević, Nikola Ilić, Nina Marić, Marina Anđelković, Tanja Lalić, Marijana Mišković, Kristel Klaassen Ljubičić, Irena Marjanović, Aleksandra Paripović and 6 more

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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. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

16 authors.

Slavica OstojićDepartment of Neurology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.ORCID 0000-0002-8979-0445
Gordana KovačevićDepartment of Neurology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.ORCID 0000-0002-0755-2153
Nikola IlićDivision of Clinical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.ORCID 0000-0003-1186-208X
Nina MarićClinic for Children Diseases, University Clinical Center of the Republic of Srpska, 78000 Banja Luka, Bosnia and Herzegovina.ORCID 0000-0003-3143-3098
Marina AnđelkovićInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11070 Belgrade, Serbia.ORCID 0000-0002-4086-6197
Tanja LalićLaboratory of Medical Genetic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Marijana MiškovićLaboratory of Medical Genetic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Kristel Klaassen LjubičićInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11070 Belgrade, Serbia.ORCID 0000-0002-3077-6091
Irena MarjanovićInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, 11070 Belgrade, Serbia.ORCID 0000-0001-9102-5251
Aleksandra ParipovićDepartment of Nephrology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Mihail BašaDepartment of Pulmology, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.ORCID 0000-0002-1420-6072
Vladislav VukomanovićFaculty of Medicine, University of Belgrade, 11070 Belgrade, Serbia.
Jovana KrstićPediatric Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Milica AdamovićPediatric Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Aleksandar SovtićFaculty of Medicine, University of Belgrade, 11070 Belgrade, Serbia.
Adrijan SarajlijaFaculty of Medicine, University of Belgrade, 11070 Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pediatric-onset neuromuscular diseases (NMDs) represent a clinically and genetically heterogeneous group of rare disorders, often posing significant diagnostic challenges due to overlapping phenotypes. Next-generation sequencing (NGS), particularly whole-exome sequencing (WES), has transformed the diagnostic landscape; however, its clinical utility varies across phenotypic subgroups. We conducted a combined retrospective-prospective cohort study that included 100 pediatric patients with suspected neuromuscular disorders evaluated at a tertiary referral center between 2015 and 2025. Patients were stratified into seven clinically defined diagnostic categories prior to genetic testing. NGS-based diagnostics (primarily WES) were performed following initial clinical and targeted evaluations. Diagnostic yield and predictors of a positive genetic result were analyzed using univariate and multivariable statistical approaches. A molecular diagnosis was established in 71% of patients, including 64% with pathogenic/likely pathogenic variants and 7% with clinically consistent variants of uncertain significance. Diagnostic yield varied significantly across disease categories (

Indexed as

High-Throughput Nucleotide SequencingNeuromuscular DiseasesAdolescentChildChild, PreschoolExome SequencingFemaleGenetic TestingHumansInfantMalePhenotypeProspective StudiesRetrospective Studiesdiagnostic yieldneuromuscular disordersnext-generation sequencing (NGS)

Identifiers

PMID42123532
PMCPMC13163609

What Socratic holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.