Evidence map›Paper›PMID 39672921›Full record

ArticleEuropean journal of human genetics : EJHG2025

CASP2 biallelic truncating variants: a new case supports the link with lissencephaly/pachygyria and expands the clinical spectrum.

Ilaria Vivaldi, Marco Imperi, Maria Giovanna Tedesco, Elisa Vinciarelli, Eleonora Chiarotto, Davide Colavito, Michela Cecconi, Teresa Anna Cantisani, Paolo Prontera

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 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. Review
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

9 authors.

Ilaria VivaldiUnit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara, Italy.ORCID http://orcid.org/0009-0007-7081-6063
Marco ImperiUnit of Medical Genetics, Department Maternal-Infantile, S. Maria della Misericordia Hospital, Perugia, Italy.
Maria Giovanna TedescoUnit of Medical Genetics, Department Maternal-Infantile, S. Maria della Misericordia Hospital, Perugia, Italy.ORCID http://orcid.org/0009-0006-4790-6573
Elisa VinciarelliUnit of Medical Genetics, Department Maternal-Infantile, S. Maria della Misericordia Hospital, Perugia, Italy.
Eleonora ChiarottoResearch & Innovation S.R.L. (R&I Genetics), Padova, Italy.
Davide ColavitoResearch & Innovation S.R.L. (R&I Genetics), Padova, Italy.
Michela CecconiUnit of Neurophysiopathology, S. Maria della Misericordia Hospital, Perugia, Italy.
Teresa Anna CantisaniUnit of Neurophysiopathology, S. Maria della Misericordia Hospital, Perugia, Italy.
Paolo PronteraUnit of Medical Genetics, Department Maternal-Infantile, S. Maria della Misericordia Hospital, Perugia, Italy. paolo.prontera@ospedale.perugia.it.ORCID http://orcid.org/0000-0003-4960-9223

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID39672921
PMCPMC12583631

What OpenQuestion holds

Textmetadata
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.