Evidence map›Paper›PMID 42100494›Full record

ArticleHuman mutation2026

Variant Curation of the Largest Compendium of

Charlotte Matton, Julie Van De Velde, Marieke De Bruyne, Stijn Van De Sompele, Sally Hooghe, Hannes Syryn, Miriam Bauwens, Eva D Haene, Annelies Dheedene, Martine Cools and 12 more

Abstract read
PubMed Full text at PMC Publisher
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. 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

22 authors.

Charlotte MattonDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-6130-5364
Julie Van De VeldeDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-0478-0580
Marieke De BruyneDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0001-6636-5537
Stijn Van De SompeleDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-3294-0668
Sally HoogheCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.
Hannes SyrynDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-0914-2676
Miriam BauwensDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0003-0402-9006
Eva D HaeneDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-5936-8294
Annelies DheedeneCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium, uzgent.be.ORCID https://orcid.org/0009-0006-8210-3944
Martine CoolsDepartment of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium, uzgent.be.ORCID https://orcid.org/0000-0002-9552-4899
Shoko KomatsuzakiInstitute of Human Genetics, University of Würzburg, Biozentrum Am Hubland, Würzburg, Germany, uni-wuerzburg.de.
Ewelina Preizner-RzucidłoDepartment of Molecular Genetics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland, cm-uj.krakow.pl.ORCID https://orcid.org/0009-0005-2904-4300
Alison RossNorth of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org.
Christine ArmstrongNorth of Scotland Regional Genetics Service, Laboratory Genetics, Aberdeen Royal Infirmary, Aberdeen, UK, nhsgrampian.org.
Wendy WatkinsDepartment of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.
Andrew ShellingDepartment of Obstetrics and Gynaecology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.ORCID https://orcid.org/0000-0002-5300-1934
Andrea L VincentDepartment of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand, auckland.ac.nz.
Catherine CassimanDepartment of Ophthalmology, Leuven University Hospital, Louvain, Belgium.ORCID https://orcid.org/0000-0002-5436-6353
Sascha VermeerCentre of Human Genetics, University Hospitals Leuven, Louvain, Belgium, uzleuven.be.ORCID https://orcid.org/0000-0001-7625-1912
David J BunyanWessex Regional Genomics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK, wrgl.org.uk.ORCID https://orcid.org/0000-0001-8686-558X
Hannah VerdinDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-0258-1000
Elfride De BaereDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.ORCID https://orcid.org/0000-0002-5609-6895

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heterozygous

Indexed as

BlepharophimosisForkhead Box Protein L2Skin AbnormalitiesUrogenital AbnormalitiesDatabases, GeneticFemaleHumansMutationForkhead Box Protein L2FOXL2 protein, human

Identifiers

PMID42100494
PMCPMC13147215

What Socratic 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 Socratic graph.