Evidence map›Paper›PMID 40226306›Full record

ArticleHuman mutation2025

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene,

Amélie Cordovado, Yvan Hérenger, Coline Cormier, Estrella López-Martín, Hannah Stamberger, Laurence Faivre, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Hamza Hadj Abdallah, Giulia Barcia and 11 more

Abstract read
In one paragraph

Article in Human mutation, 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. 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

21 authors.

Amélie CordovadoImaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.ORCID 0000-0003-3125-556X
Yvan HérengerGenetica AG, Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.ORCID 0009-0001-0082-5729
Coline CormierGenetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.ORCID 0009-0001-9017-835X
Estrella López-MartínInstitute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.ORCID 0000-0003-3212-1424
Hannah StambergerApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Laurence FaivreGenetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.ORCID 0000-0001-9770-444X
Anne-Sophie Denommé-PichonGenetic Center, Rare Diseases Reference Center On Developmental Anomalies and Malformative Syndromes, FHU TRANSLAD, University Hospital, Dijon, France.ORCID 0000-0002-8986-8222
Antonio VitobelloINSERM, Unit 1231 GAD Team, Burgundy University, Dijon, France.
Hamza Hadj AbdallahRare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.ORCID 0009-0009-9463-1703
Giulia BarciaRare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.ORCID 0000-0001-6657-5040
Thomas CourtinRare Diseases Genomic Medicine Department, Necker-Enfants Malades University Hospital, Paris, France.
Beatriz Martínez-DelgadoInstitute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.ORCID 0000-0001-6834-350X
Eva Bermejo-SánchezInstitute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.ORCID 0000-0001-7282-2714
María J BarreroInstitute of Rare Disease Research, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.ORCID 0000-0002-5990-7040
Brooklynn GasserMedical Affairs, Ambry Genetics, Aliso Viejo, California, USA.ORCID 0009-0001-8481-9114
Stéphane BezieauMedical Genetics Department, University Hospital, Nantes, France.ORCID 0000-0003-0095-1319
Sébastien KüryMedical Genetics Department, University Hospital, Nantes, France.ORCID 0000-0001-5497-0465
Sarah WeckhuysenApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.ORCID 0000-0003-2878-1147
Frédéric LaumonnierImaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.ORCID 0000-0003-2567-0708
Annick ToutainImaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.ORCID 0000-0002-5999-5300
Marie-Laure VuillaumeImaging Brain and Neuropsychiatry, iBraiN U1253, INSERM, University of Tours, Tours, France.ORCID 0000-0003-1080-972X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability is a neurodevelopmental disorder, affecting 2%-3% of the population, with a genetic cause in the majority of cases.

Indexed as

Dendritic SpinesIntellectual DisabilityMutation, MissenseSodium-Potassium-Exchanging ATPaseFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHeLa CellsHeterozygoteHumansMalePedigreePhenotypeSodium-Potassium-Exchanging ATPase

Identifiers

PMID40226306
PMCPMC11987072

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.