Evidence map›Paper›PMID 41960368›Full record

ArticleHuman mutation2026

Cellular Functional Analyses of

Rasha Faraj, Audrey Farrugia, Anna C E Hurst, Pierre Conan, Jennifer Martin, Audrey Schalk, Sylvia Redon, Aline Dubos, Mathilde Gras, Aurore Curie and 2 more

Abstract read
In one paragraph

Article in Human mutation, 2026. 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. Cellular Functional Analyses ofHuman mutation · 2026
    Article
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.

Rasha FarajUMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.ORCID https://orcid.org/0009-0005-7915-6255
Audrey FarrugiaInstitut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France, unistra.fr.ORCID https://orcid.org/0000-0002-4453-1618
Anna C E HurstDepartment of Genetics, University of Alabama, Birmingham, USA, ua.edu.ORCID https://orcid.org/0000-0002-9765-9703
Pierre ConanUMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.ORCID https://orcid.org/0000-0002-6782-6494
Jennifer MartinUMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.ORCID https://orcid.org/0009-0001-7898-9264
Audrey SchalkLaboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, chru-strasbourg.fr.ORCID https://orcid.org/0009-0003-9924-870X
Sylvia RedonService de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.ORCID https://orcid.org/0000-0001-7310-1142
Aline DubosInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr.ORCID https://orcid.org/0000-0001-9279-0166
Mathilde GrasDepartment of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.ORCID https://orcid.org/0000-0002-2376-8026
Aurore CurieChild Neurology Department and Reference Centre of Rare Disease With Intellectual Disability, Hospices Civils de Lyon, Lyon University Hospital, Lyon, France, chu-lyon.fr.ORCID https://orcid.org/0000-0001-7823-290X
Cécile VoissetUMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.ORCID https://orcid.org/0000-0001-7505-1927
Gaëlle FriocourtUMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.ORCID https://orcid.org/0000-0001-6681-7644

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) encompass a wide range of conditions often linked to genetic causes, with mutations in the X-linked

Indexed as

Genetic Association StudiesHomeodomain ProteinsNeurodevelopmental DisordersTranscription FactorsFemaleGenetic Predisposition to DiseaseHumansMaleMutationPhenotypeARX protein, humanHomeodomain ProteinsTranscription Factorscerebral palsydystoniaepileptic encephalopathyintellectual deficiencyinterneuronopathyneurodevelopmentspastic quadriplegia

Identifiers

PMID41960368
PMCPMC13058441

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.