Evidence map›Paper›PMID 41465129›Full record

ArticleGenes2025

Neurodevelopmental Phenotype Associated with

Katia Margiotti, Marco Fabiani, Antonella Cima, Francesca Monaco, Antonella Viola, Alvaro Mesoraca, Claudio Giorlandino

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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

7 authors.

Katia MargiottiHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0003-0432-1525
Marco FabianiHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0002-8763-0114
Antonella CimaHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.
Francesca MonacoHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.
Antonella ViolaHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.
Alvaro MesoracaHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.ORCID 0009-0000-6954-6392
Claudio GiorlandinoHuman Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.ORCID 0000-0002-8448-7260

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPathogenic variants in the

methodsWhole-exome sequencing (WES) was performed on a proband with speech disorder and ASD, as well as on her parents. Clinical assessment included developmental, cognitive, and physical evaluations.

resultsA heterozygous missense variant c.3404A>T (p. Asp1135Val) in the

conclusionsIn line with recent genotype-phenotype studies, missense TRIP12 variants tend to be associated with milder neurodevelopmental presentations, typically characterized by mild to moderate intellectual impairment, variable autistic traits, limited or absent facial features, and a low incidence of epilepsy. This familial case further presents the phenotypic spectrum of

Indexed as

Autism Spectrum DisorderIntellectual DisabilityNeurodevelopmental DisordersAdultChildChild, PreschoolExome SequencingFemaleHumansMaleMutation, MissensePedigreePhenotypeautism spectrum disorder (ASD)intellectual disabilityspeech disorderTRIP12 genewhole-exome sequencing (WES)

Identifiers

PMID41465129
PMCPMC12732778

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.