Evidence map›Paper›PMID 41153391›Full record

ReviewGenes2025

Bridging Genotype to Phenotype in

Davide Politano, Renato Borgatti, Giulia Borgonovi, Angelina Cistaro, Cesare Danesino, Piercarlo Fania, Gaia Garghetti, Andrea Guala, Isabella Orlando, Irene Giovanna Schiera and 7 more

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

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

17 authors.

Davide PolitanoDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-3795-1972
Renato BorgattiDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Giulia BorgonoviUnit of Genetics, Clinical Biochemistry, University Hospital "Maggiore della Carità", 28100 Novara, Italy.
Angelina CistaroAIMN Pediatric Study Group, 20146 Milan, Italy.ORCID 0000-0001-8024-8425
Cesare DanesinoA.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy.ORCID 0000-0002-8400-5671
Piercarlo FaniaIndependent Researcher, 10100 Turin, Italy.
Gaia GarghettiDepartment of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy.
Andrea GualaA.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy.
Isabella OrlandoDepartment of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
Irene Giovanna SchieraA.B.C. Associazione Bambini Cri du Chat Scientific Committee, 50126 Firenze, Italy.
Claudia ScottiUnit of Immunology and General Pathology, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-5790-1833
Fabio SirchiaDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.ORCID 0000-0002-4598-2023
Romina RomanielloDepartment of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy.
Gaia VisaniDepartment of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Denise VurchioUnit of Genetics, Clinical Biochemistry, University Hospital "Maggiore della Carità", 28100 Novara, Italy.
Simona MelloneUnit of Genetics, Clinical Biochemistry, University Hospital "Maggiore della Carità", 28100 Novara, Italy.
Mara GiordanoUnit of Genetics, Clinical Biochemistry, University Hospital "Maggiore della Carità", 28100 Novara, Italy.ORCID 0000-0001-6686-4600

Funding

Department of Health Sciences, Università del Piemonte Orientale RIVgiordanomFONDI_ATENEO
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Autism Spectrum DisorderHistone-Lysine N-MethyltransferaseIntellectual DisabilityAdolescentFemaleFluorodeoxyglucose F18Genetic Association StudiesGenotypeHumansMalePhenotypePositron Emission Tomography Computed TomographyRNA-SeqFluorodeoxyglucose F18Histone-Lysine N-Methyltransferaseautism spectrum disorder (ASD)genotype–phenotype correlationKMT5Bneurodevelopmental disorderneuropsychological assessmentPositron Emission Tomography (PET)RNA-seq

Identifiers

PMID41153391
PMCPMC12562829

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.