Evidence map›Paper›PMID 42353758›Full record

ArticleGenes2026

A Novel Variant of the

Elena Falcone, Alessia Bauleo, Laura De Stefano, Rossella Brando, Sabrina Maietta, Elisabetta Tabolacci, Alberto Montesanto, Vincenza Pace, Rosalbina Apa, Domenica Puntorieri and 4 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Elena FalconeBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Alessia BauleoBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Laura De StefanoBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Rossella BrandoBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Sabrina MaiettaDipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.
Elisabetta TabolacciDipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.ORCID 0000-0002-4707-2242
Alberto MontesantoDipartimento di Biologia, Ecologia e Scienze della Terra, Università della Calabria, 87036 Rende, Italy.ORCID 0000-0002-9563-2216
Vincenza PaceBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Rosalbina ApaBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Domenica PuntorieriDipartimento Materno Infantile Neuropsichiatria Infanzia e Adolescenza Rossano-Cariati, Azienda Sanitaria Provinciale di Cosenza, 87064 Cosenza, Italy.
Luca CentoAssociazione Equilibri Pedagogici, Studio Pedagogico Interdisciplinare, 89129 Reggio Calabria, Italy.
Giada CuconatoBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.ORCID 0009-0006-8644-1035
Maria Grazia MuoioBIOGENET, Laboratorio di Genetica Medica e Forense Cosenza, 87100 Cosenza, Italy.
Maurizio GenuardiDipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, 00168 Roma, Italy.ORCID 0000-0002-7410-8351

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Autism Spectrum DisorderDNA-Binding ProteinsTranscription FactorsExome SequencingFemaleHaploinsufficiencyHumansMegalencephalyMutationRNA SplicingCHD8 protein, humanDNA-Binding ProteinsTranscription FactorsASDCHD8exomemacrocephalyvariant

Identifiers

PMID42353758
PMCPMC13298503

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.