Evidence map›Paper›PMID 42511567›Full record

ReviewInternational journal of molecular sciences2026

Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site

Elisa Gravagno, Melissa Bellini, Enrico Ambrosini, Anita Luberto, Sabrina Busciglio, Giulia Vitetta, Ilenia Rita Cannizzaro, Antonietta Taiani, Valeria Barili, Antonio Percesepe and 2 more

Abstract readReviewCase Reports
In one paragraph

Review 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

12 authors.

Elisa GravagnoMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.
Melissa BelliniPediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.
Enrico AmbrosiniMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.
Anita LubertoMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Sabrina BusciglioMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Giulia VitettaMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.
Ilenia Rita CannizzaroMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0009-6816-6131
Antonietta TaianiMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0009-0004-4282-6801
Valeria BariliMedical Genetics, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.ORCID 0000-0001-7711-2156
Antonio PercesepeMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-3268-6786
Vera UlianaMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.
Davide MartoranaMedical Genetics Unit, University Hospital of Parma, 43126 Parma, Italy.ORCID 0000-0002-7572-7031

Funding

Fondazione Emma ed Ernesto Rulfo 01
6 · The paper itself

Abstract

Brunner syndrome is a rare X-linked neurodevelopmental disorder caused by loss-of-function (LOF) variants in the monoamine oxidase A gene (

Indexed as

Monoamine OxidaseRNA Splice SitesX-Linked Intellectual DisabilityAdultExome SequencingGenotypeHumansMaleSerotonin AntagonistsMonoamine Oxidasemonoamine oxidase A, humanRNA Splice SitesSerotonin AntagonistsBrunner syndromeclinical exome sequencinggenotype-driven therapyMAOAmonoamine dysregulationSARIserotonin antagonist and reuptake inhibitorsplice-site variant

Identifiers

PMID42511567
PMCPMC13409923

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.