Evidence map›Paper›PMID 40371095›Full record

ArticleHuman mutation2025

Deletion Testing of the

Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, Maria Elena Onore, Pasquale Di Letto, Sarah Iffat Rahman, Gaetano Terrone, Lorenzo Ugga, Agnese De Giorgi, Michele Dei Cas and 7 more

Abstract readCase Reports
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. Neurology. Genetics · 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

17 authors.

Mariateresa ZanobioDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0000-0002-3750-1592
Francesca NardecchiaDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-0808-2827
Gerarda CappuccioChild Neurology, Department of Translational Medicine, Federico II University, Naples, Italy.ORCID https://orcid.org/0000-0003-3934-2342
Maria Elena OnoreDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0000-0001-8329-0215
Pasquale Di LettoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0009-0001-0214-8004
Sarah Iffat RahmanDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0009-0004-3597-5710
Gaetano TerroneChild Neurology, Department of Translational Medicine, Federico II University, Naples, Italy.ORCID https://orcid.org/0000-0002-0298-0714
Lorenzo UggaDepartment of Translational Medicine, University of Naples "Federico II", Naples, Italy.ORCID https://orcid.org/0009-0005-4936-722X
Agnese De GiorgiDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0009-0009-0516-6150
Michele Dei CasDepartment of Health Sciences, University of Milan, Milano, Italy.ORCID https://orcid.org/0000-0001-7359-8558
Marco TrincheraDepartment of Medicine and Surgery (DMC), University of Insubria, Varese, Italy.ORCID https://orcid.org/0000-0003-0194-6933
Vincenzo LeuzziDepartment of Human Neuroscience, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-2314-6139
Giulio PilusoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0000-0001-9418-125X
Vincenzo NigroDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0000-0002-3378-5006
Nicola Brunetti-PierriDepartment of Translational Medicine, University of Naples "Federico II", Naples, Italy.ORCID https://orcid.org/0000-0002-6895-8819
TUDP consortium
Annalaura TorellaDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.ORCID https://orcid.org/0000-0003-2479-6018

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to the increased use of NGS, a growing number of pathogenic single nucleotide variants in

Indexed as

Gene DeletionHereditary Central Nervous System Demyelinating DiseasesAdolescentChild, PreschoolExome SequencingFemaleHumansMaleMutation, MissensePedigreePhenotype

Identifiers

PMID40371095
PMCPMC12077970

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.