Evidence map›Paper›PMID 40935604›Full record

ArticleJournal of medical genetics2025

Further evidence of

Fulvio D'Abrusco, Simone Gana, Enrico Alfei, Emanuela Scarano, Francesco Nicita, Enrico Silvio Bertini, Maria Cristina Digilio, Ginevra Zanni, Domenico Barbuti, Eleonora Carlicchi and 4 more

Abstract read
In one paragraph

Article in Journal of medical genetics, 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

14 authors.

Fulvio D'AbruscoNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.ORCID http://orcid.org/0000-0003-2470-665X
Simone GanaNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
Enrico AlfeiPediatric Neurology Unit, Ospedale dei Bambini Vittore Buzzi, Milano, Italy.
Emanuela ScaranoPediatric Unit, IRCCS University Hospital of Bologna Sant Orsola Polyclinic, Bologna, Italy.
Francesco NicitaUnit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.ORCID http://orcid.org/0000-0002-5612-821X
Enrico Silvio BertiniUnit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.ORCID http://orcid.org/0000-0001-9276-4590
Maria Cristina DigilioRare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.
Ginevra ZanniRare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.
Domenico BarbutiImaging Department, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.
Eleonora CarlicchiPediatric Radiology Unit, Vittore Buzzi Children's Hospital, Milan, Italy.
Anna PichiecchioDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Stefano D'ArrigoDevelopmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.ORCID http://orcid.org/0000-0001-5188-9418
Valentina SerpieriDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.ORCID http://orcid.org/0000-0002-3553-0066
Enza Maria ValenteNeurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.ORCID http://orcid.org/0000-0002-0600-6820

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleCerebellumEye AbnormalitiesKidney Diseases, CysticRetinaRNA, Small NuclearAdolescentChildChild, PreschoolExome SequencingFemaleHumansInfantMaleMutationPhenotypeRNA, Small NuclearRNU4ATAC RNA, humangenetics

Identifiers

PMID40935604
PMCPMC12703291

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.