Evidence map›Paper›PMID 42774555›Full record

ArticleInternational journal of reproductive biomedicine2026

Whole-genome sequencing identifies a potentially causative homozygous splicing variant in

Razieh Ebrahimi Askari, Agnieszka Malcher, Sara Sadeghzadeh, Rim Ibrahim, Krzysztof Pastuszak, Aashish Srivastava, Seyed Mehdi Kalantar, Serajoddin Vahidi, Nasrin Ghasemi, Maciej Kurpisz

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Article in International journal of reproductive biomedicine, 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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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

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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

10 authors.

Razieh Ebrahimi AskariDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Agnieszka MalcherInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Sara SadeghzadehDepartment of Molecular Medicine, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Rim IbrahimInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Krzysztof PastuszakDepartment of Algorithms and System Modelling, Gdansk University of Technology, Gdansk, Poland.
Aashish SrivastavaGenome Core Facility, Clinical Laboratory, Haukeland University Hospital, Bergen, Norway.
Seyed Mehdi KalantarDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Serajoddin VahidiAndrology Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Nasrin GhasemiAbortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Maciej KurpiszInstitute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Non-obstructive azoospermia (NOA) is a severe form of male infertility characterized by impaired spermatogenesis. Although chromosomal abnormalities and Y-chromosome microdeletions are known causes, many cases remain idiopathic, suggesting that other genetic factors may be involved. RAD54 like ( Objective: To identify the potential genetic cause of NOA using whole-genome sequencing (WGS) in affected individuals from consanguineous families. Materials and Methods: For performing this experimental study, 10 NOA men who were referred to Infertility Center of the Yazd Reproductive Sciences Institute, Yazd, Iran underwent clinical, hormonal, and genetic evaluations. Genomic DNA was extracted from peripheral blood and was subjected to WGS. Variants were filtered and prioritized based on allele frequency, predicted pathogenicity, inheritance pattern, and gene expression data. In silico splicing analyses were performed using SpliceAI and Human Splicing Finder. Results: WGS identified an ultrarare homozygous splice-site variant, c.1375+1G Conclusion: This study proposes

Indexed as

AzoospermiaInfertilityRAD54LSpermatogenesisSplice-site variant.Whole genome sequencing

Identifiers

PMID42774555
PMCPMC13594367

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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.