Evidence map›Paper›PMID 36833254›Full record

ArticleGenes2023

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.

Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. 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
1.3field-weighted citation impact, top 18% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

7 authors at 4 institutions in 1 country.

Sorina Mihaela PapucMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-1352-3535
Alina ErbescuMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.
Adelina GlangherPsychiatry Research Laboratory, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, 041914 Bucharest, Romania.
Ioana StreataRegional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Anca-Lelia RizaRegional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania.
Magdalena BudisteanuMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.
Aurora ArghirMedical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.ORCID 0000-0002-9315-5604
Institutul National Victor Babes · ROUniversity of Medicine and Pharmacy of Craiova · ROClinical Emergency Hospital Bucharest · ROTitu Maiorescu University · RO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Orofaciodigital syndrome I (OFD1-MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females. The gene responsible for this condition, OFD1 centriole and centriolar satellite protein (

Indexed as

Autistic DisorderCiliopathiesOrofaciodigital SyndromesCentriolesFemaleHumansProteinsOFD1 protein, humanProteinsautismciliopathyneuronal migration

Identifiers

PMID36833254
PMCPMC9957277
OpenAlexW4318477582

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.