Evidence map›Paper›PMID 40564942›Full record

ArticleInternational journal of molecular sciences2025

Molecular Screening Reveals De Novo Loss-of-Function

Najwa M Alharbi, Wejdan F Baaboud, Heba Shawky, Aisha A Alrofaidi, Reem M Farsi, Khloud M Algothmi, Shahira A Hassoubah, Fatemah S Basingab, Sheren A Azhari, Mona G Alharbi and 2 more

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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

12 authors.

Najwa M AlharbiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Wejdan F BaaboudFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Heba ShawkyTherapeutic Chemistry Department, Pharmaceutical Industries and Drug Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt.ORCID 0000-0001-8403-1143
Aisha A AlrofaidiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0002-0416-2723
Reem M FarsiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0001-7593-8018
Khloud M AlgothmiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Shahira A HassoubahFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Fatemah S BasingabFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0001-5251-559X
Sheren A AzhariFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Mona G AlharbiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.
Reham YahyaDepartment of Medical Microbiology, College of Science and Health Professions, King Saud Bin Abdul-Aziz University for Health Sciences, Riyadh 14611, Saudi Arabia.ORCID 0000-0002-7740-2433
Safiah AlhazmiFaculty of Science, Department of Biological Sciences, King Abdul-Aziz University, Jeddah 21589, Saudi Arabia.ORCID 0000-0003-0755-4498

Funding

King Faisal Specialist Hospital & Research Center CFAR/438/40
6 · The paper itself

Abstract

Dysregulated expression of nuclear receptor superfamily 4 group A member 2 (

Indexed as

Autism Spectrum DisorderLoss of Function MutationNuclear Receptor Subfamily 4, Group A, Member 2AdolescentChildChild, PreschoolExome SequencingFemaleGenetic Predisposition to DiseaseHumansMalePhenotypeSaudi ArabiaNR4A2 protein, humanNuclear Receptor Subfamily 4, Group A, Member 2ASDdevelopmental disordersNR4A2recurrent variantsspeech impairment

Identifiers

PMID40564942
PMCPMC12193383

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.