Evidence map›Paper›PMID 41657762›Full record

ArticleMolecular syndromology2026

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo

Hicham Bouchahta, Maryem Sahli, Nada Amllal, Mouna Ouhenach, Laila Sbabou, Abdelaziz Sefiani

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Article in Molecular syndromology, 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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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

6 authors.

Hicham BouchahtaMicrobiology and Molecular Biology Team, Center of Plant and Microbial Biotechnology, Biodiversity and Environment, Faculty of Sciences, Mohammed V University in Rabat, Rabat, Morocco.
Maryem SahliDepartment of Medical Genetics, National Institute of Health in Rabat, Rabat, Morocco.
Nada AmllalResearch Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V in Rabat, Imp., Souissi, Morocco.
Mouna OuhenachDepartment of Medical Genetics, National Institute of Health in Rabat, Rabat, Morocco.
Laila SbabouMicrobiology and Molecular Biology Team, Center of Plant and Microbial Biotechnology, Biodiversity and Environment, Faculty of Sciences, Mohammed V University in Rabat, Rabat, Morocco.
Abdelaziz SefianiDepartment of Medical Genetics, National Institute of Health in Rabat, Rabat, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Case Presentation: In this work, clinical exome sequencing (CES) was performed on dizygotic twin sisters who presented with neurodevelopmental delay, intellectual disability, behavioral issues, and microcephaly. Segregation analysis using conventional Sanger sequencing was conducted on the parents to assess the inheritance pattern. A pathogenic missense variant c.4283G>A (p.Arg1428Gln) in the GEFD1 domain of the Conclusion: These findings highlight the diagnostic value of CES in rare neurodevelopmental disorders and suggest a plausible but unproven parental germline or early postzygotic mosaic event, while acknowledging alternative explanations.

Indexed as

Clinical exome sequencingMosaicismTRIO-associated NDDTRIO gene

Identifiers

PMID41657762
PMCPMC12880851

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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.