Evidence map›Paper›PMID 42650049›Full record

ArticleGenes2026

Phenotypic Expansion of

Giulia Pianigiani, Lara Emily Rosso, Anna Morgan, Beatrice Spedicati, Manuela Napoli, Stefano Giuseppe Caraffi, Emanuele Coccia, Valeria Polizzi, Livia Garavelli, Giorgia Girotto

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

10 authors.

Giulia PianigianiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.ORCID 0000-0003-0851-1473
Lara Emily RossoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Strada di Fiume 447, 34149 Trieste, Italy.
Anna MorganInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Beatrice SpedicatiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.ORCID 0000-0002-7432-4708
Manuela NapoliNeuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.ORCID 0000-0002-0434-4172
Stefano Giuseppe CaraffiMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.ORCID 0000-0002-5033-7854
Emanuele CocciaMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.ORCID 0009-0000-7586-6632
Valeria PolizziDepartment of Audiology, Azienda USL-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.
Livia GaravelliMedical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Viale Risorgimento 80, 42123 Reggio Emilia, Italy.
Giorgia GirottoInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.ORCID 0000-0003-4507-6589

Funding

BENEFICENTIA Stiftung BENEFICENTIA Stiftung to Giorgia GirottoMinistry of Health Ricerca Corrente L3_20/24University of Trieste D70-RESRICGIROTTO
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Ear, InnerHearing Loss, SensorineuralMyosin-Light-Chain PhosphataseChildExome SequencingFemaleHumansMalePhenotypeRNA SplicingMyosin-Light-Chain PhosphatasePPP1R12A protein, humanGUBS syndromeinner ear malformationsphenotypic expansionPPP1R12Asensorineural hearing losswhole-exome sequencing

Identifiers

PMID42650049
PMCPMC13512303

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.