Evidence map›Paper›PMID 35205294›Full record

ArticleGenes2022

Chiara Migliore, Anna Vendramin, Shane McKee, Paolo Prontera, Francesca Faravelli, Rani Sachdev, Patricia Dias, Martina Mascaro, Danilo Licastro, Germana Meroni

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. 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
0.3field-weighted citation impact, top 50% 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, 3 citations in OpenAlex.

  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

10 authors at 8 institutions in 4 countries.

Chiara MiglioreDepartment of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Anna VendraminGenomic and Bioinformatic Lab., Cluster in Biomedicine, S.c.r.l., 34149 Trieste, Italy.
Shane McKeeNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.ORCID 0000-0002-1772-0106
Paolo PronteraMedical Genetics Unit, University and Hospital of Perugia, 06129 Perugia, Italy.
Francesca FaravelliThe North East Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.
Rani SachdevSt George and Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Patricia DiasServiço de Genética Médica, Hospital de Santa Maria, Centro Universitário Hospitalar Lisboa Norte, 1649-028 Lisbon, Portugal.
Martina MascaroDepartment of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Danilo LicastroArea Science Park, 34149 Trieste, Italy.
Germana MeroniDepartment of Life Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0003-2531-114X
University of Trieste · ITAREA Science Park · ITCluster in Biomedicine · ITGreat Ormond Street Hospital · GBHospital de Santa Maria · PTSydney Children's Hospital · AUUniversity of Perugia · ITUniversity of Ulster · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Opitz G/BBB syndrome (OS) is a rare genetic developmental condition characterized by congenital defects along the midline of the body. The main clinical signs are represented by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias. The X-linked form of the disease is associated with mutations in the

Indexed as

HypertelorismHypospadiasEsophagusFemaleHumansMaleMutationPhenotypeSyndromehypospadiasMID1 geneOpitz G/BBB SyndromeSPECC1L gene

Identifiers

PMID35205294
PMCPMC8871657
OpenAlexW4214771551

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.