Evidence map›Paper›PMID 42653232›Full record

ArticleInternational journal of molecular sciences2026

Whole-Genome Sequencing Identifies Potentially Causative Variants in

Razieh Ebrahimi Askari, Agnieszka Malcher, Fateme Sefid, Sara Sadeghzadeh, Rim Ibrahim, Krzysztof Pastuszak, Aashish Srivastava, Seyed Mehdi Kalantar, Serajoddin Vahidi, Nasrin Ghasemi and 1 more

Abstract read
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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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

11 authors.

Razieh Ebrahimi AskariDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 8916978477, Iran.ORCID 0009-0000-8474-0601
Agnieszka MalcherInstitute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland.ORCID 0000-0002-3433-6990
Fateme SefidDepartment of Molecular Medicine, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 8916978477, Iran.ORCID 0000-0003-0867-9305
Sara SadeghzadehDepartment of Molecular Medicine, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 8916978477, Iran.ORCID 0000-0001-9173-5114
Rim IbrahimInstitute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland.ORCID 0009-0008-2284-2264
Krzysztof PastuszakDepartment of Algorithms and System Modelling, Gdansk University of Technology, 80-233 Gdansk, Poland.ORCID 0000-0002-5562-0114
Aashish SrivastavaGenome Core Facility, Department of Clinical Science, Haukeland University Hospital, 5021 Bergen, Norway.
Seyed Mehdi KalantarDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 8916978477, Iran.
Serajoddin VahidiAndrology Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916877391, Iran.
Nasrin GhasemiDepartment of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 8916978477, Iran.
Maciej KurpiszInstitute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland.ORCID 0000-0003-3275-3245

Funding

National Science Centre 2020/37/B/NZ5/00549 (to MK)
6 · The paper itself

Abstract

More than 70% of non-obstructive azoospermia (NOA) cases remain idiopathic, and the underlying genetic causes need to be investigated. In this study, we aimed to identify genes and variants associated with the etiology of NOA. Two NOA patients from consanguineous families, with normal karyotypes and no Y-chromosome microdeletions, were selected for whole-genome sequencing (WGS). Candidate variants were validated by Sanger sequencing. Structural protein modeling and assessment of mutation-induced changes in molecular interactions were performed using SWISS-MODEL and AlphaFold. We identified a candidate homozygous missense variant (c.899C>T, p.(Ser300Phe); rs375931805) in

Indexed as

A Kinase Anchor ProteinsAzoospermiaTranscription FactorsUbiquitin-Protein LigasesHumansMaleMutation, MissensePedigreeWhole Genome SequencingA Kinase Anchor ProteinsTranscription FactorsUbiquitin-Protein LigasesAKAP4infertilitynon-obstructive azoospermiaRNF220SOX30whole-genome sequencing

Identifiers

PMID42653232
PMCPMC13513913

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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.