Evidence map›Paper›PMID 38674365›Full record

ArticleGenes2024

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.9field-weighted citation impact, top 15% of its field
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

3 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Biomarkers in Hereditary Spastic Paraplegias.International journal of molecular sciences · 2025
    Review
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

11 authors at 5 institutions in 1 country.

Mario BenvenutoDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-3186-0199
Sofia CesariniU.O.C. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Giulia SeveriU.O.C. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0001-8184-865X
Enrico AmbrosiniU.O.C. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-7520-3721
Angelo RussoU.O.C. Neuropsichiatria Infantile, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Marco SeriMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-2425-2176
Pietro PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-9498-9902
Orazio PalumboDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0001-6583-3482
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Emanuele PanzaMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-2338-1139
Massimo CarellaDivision of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-6830-6829
Casa Sollievo della Sofferenza · ITMedica (Italy) · ITAzienda USL di Bologna · ITIstituto delle Scienze Neurologiche di Bologna · ITUniversity of Foggia · IT

Funding

Ministero della Salute Ricerca Corrente Program 2022-2024 to Massimo Carella
6 · The paper itself

Abstract

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder caused by mutations in the

Indexed as

Developmental DisabilitiesDNA-Binding ProteinsAutistic DisorderChildHumansIntellectual DisabilityMaleMegalencephalyPhenotypeRNA SplicingSilent MutationDNA-Binding ProteinsKMT2E protein, humanKMT2Eneurodevelopmental disorderssplicing

Identifiers

PMID38674365
PMCPMC11049644
OpenAlexW4393931164

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.