Evidence map›Paper›PMID 42123666›Full record

ArticleInternational journal of molecular sciences2026

A De Novo

Mirella Vinci, Antonino Musumeci, Simone Treccarichi, Miriam Virgillito, Siria Calì, Angelo Gloria, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì

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

Article in International journal of molecular sciences, 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

10 authors.

Mirella VinciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0003-3026-8510
Antonino MusumeciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-8999-3365
Simone TreccarichiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-5631-9991
Miriam VirgillitoDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.ORCID 0009-0007-6465-2998
Siria CalìDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.
Angelo GloriaOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-2848-2844
Concetta FedericoDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.
Salvatore SacconeDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.ORCID 0000-0001-7568-5823
Maurizio EliaOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-0414-1359
Francesco CalìOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-8667-8223

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are increasingly recognized as conditions with a complex, multisystemic origin. ASD frequently co-occurs with other neurological conditions, such as epilepsy. We report a female patient, born to unrelated healthy parents, presenting with a complex clinical phenotype characterized by ASD level 1 with fluent speech, borderline intellectual functioning (BIF), coordination disorder, and epilepsy. Trio-based whole-exome sequencing (WES) revealed a de novo variant in the

Indexed as

Neurodevelopmental DisordersUbiquitin ThiolesteraseExome SequencingFemaleGenetic Predisposition to DiseaseHumansNerve Tissue ProteinsNeurexinsPedigreePhenotypeNerve Tissue ProteinsNeurexinsNRXN2 protein, humanUbiquitin ThiolesteraseLow-density lipoprotein receptor-related proteinmolecular diagnosisneurexinneurodevelopmental disordersnext generation sequencingubiquitin carboxyl-terminal hydrolase

Identifiers

PMID42123666
PMCPMC13164258

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.