Evidence map›Paper›PMID 33348901›Full record

ArticleGenes2020

Exon-Trapping Assay Improves Clinical Interpretation of

Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
1.4field-weighted citation impact, top 17% 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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2025
    Article
  5. Article
  6. Article
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  8. Article
  9. Article
  10. Article
  11. Denosumab for the treatment of primary pediatric osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021
    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

13 authors at 4 institutions in 1 country.

Lucia MicaleDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.ORCID 0000-0003-3604-194X
Silvia MorlinoDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.ORCID 0000-0002-1094-1774
Annalisa SchirizziDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Emanuele AgoliniLaboratory of Medical Genetics, IRCCS-Bambino Gesù Children's Hospital, 00146 Rome, Italy.ORCID 0000-0001-6543-6225
Grazia NardellaDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Carmela FuscoDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Stefano CastellanaUnit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Vito GuarnieriDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Roberta VillaMedical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Maria Francesca BedeschiMedical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.ORCID 0000-0002-6723-9177
Paola GrammaticoMedical Genetics Laboratory, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Rome, Italy.
Antonio NovelliLaboratory of Medical Genetics, IRCCS-Bambino Gesù Children's Hospital, 00146 Rome, Italy.ORCID 0000-0002-9037-4297
Marco CastoriDivision of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Foggia, Italy.
Casa Sollievo della Sofferenza · ITBambino Gesù Children's Hospital · ITFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITCarlo Forlanini Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in

Indexed as

Point MutationAdultBase SequenceCollagen Type XIConnective Tissue DiseasesDevelopmental DisabilitiesDiagnosis, DifferentialDwarfismEhlers-Danlos SyndromeFemaleHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornIntronsMaleCOL11A1 protein, humanCOL11A2 protein, humanCollagen Type XIProtein IsoformsRNA, MessengerCOL11A1COL11A2stickler syndrome

Identifiers

PMID33348901
PMCPMC7766184
OpenAlexW3112694042

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.