Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.

Marton Tompa, Gabriella Sinko, Judit Mally, Judit Karteszi, Bernadette Kalman

Abstract read

In one paragraph

Article in International journal of molecular sciences, 2025. 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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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

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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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

5 authors.

Marton TompaNational Genomic Center, Szentagothai Research Center, 20. Ifjusag Street, 7633 Pecs, Hungary.

Gabriella SinkoMarkusovszky University Teaching Hospital, Molecular Medicine, 5. Markusovszky Street, 9700 Szombathely, Hungary.

Judit MallyNeurorehabilitation, 3. Major Street, 9400. Sopron, Hungary.

Judit KartesziGenetic Counseling, Saint Rafael Hospital of Zala Castle County, 1. Zrinyi Street, 8900 Zalaegerszeg, Hungary.

Bernadette KalmanNational Genomic Center, Szentagothai Research Center, 20. Ifjusag Street, 7633 Pecs, Hungary.ORCID 0000-0003-2592-3939

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) represent a heterogeneous group of diseases with a variety of clinical presentations related to different genetic, epigenetic, and environmental etiologies. Numerous pathogenic variants have been identified by comprehensive genetic approaches such as next-generation sequencing and chromosomal microarray analyses. This study included eleven pediatric patients with NDDs who were referred to our Molecular Medicine (MM) unit for further diagnostic workup. Whole exome sequencing (WES) was performed, and data were analyzed as part of a contracted service with the National Genomic Center and iBioScience LTD. Likely pathogenic single nucleotide variants in genes

Indexed as

Exome SequencingGenetic Predisposition to DiseaseNeurodevelopmental DisordersAdolescentChildChild, PreschoolCohort StudiesDEAD-box RNA HelicasesDNA Copy Number VariationsFemaleHumansInfantMaleMutationTranscription FactorsDDX3X protein, humanDEAD-box RNA HelicasesTranscription Factorscopy number variantsmolecular medicineneurodevelopmental disordersingle nucleotide variantswhole exome sequencing

Identifiers

PMID41155467

DOI10.3390/ijms262010176

PMCPMC12563860

What OpenQuestion 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 OpenQuestion graph.