Evidence map›Paper›PMID 35910214›Full record

ArticleFrontiers in genetics2022

Case Report: A Novel Homozygous Missense Variant of

Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini

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

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

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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

9 authors at 5 institutions in 1 country.

Maria Luce GenovesiDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Barbara TorresMedical Genetics Division, IRCCS Casa Sollievo Della Sofferenza Foundation, San Giovanni Rotondo, Italy.
Marina GoldoniMedical Genetics Division, IRCCS Casa Sollievo Della Sofferenza Foundation, San Giovanni Rotondo, Italy.
Eliana SalvoMedical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Claudia CesarioTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Massimo MajoloHospital Directorate, National Hospital A.O.R.N. "Antonio Cardarelli", Naples, Italy.
Tommaso MazzaLaboratory of Bioinformatics, IRCCs Casa Sollievo Della Sofferenza Foundation, San Giovanni Rotondo, Italy.
Carmelo PiscopoMedical and Laboratory Genetics Unit, National Hospital A.O.R.N. "Antonio Cardarelli", Naples, Italy.
Laura BernardiniMedical Genetics Division, IRCCS Casa Sollievo Della Sofferenza Foundation, San Giovanni Rotondo, Italy.
Casa Sollievo della Sofferenza · ITOspedale Antonio Cardarelli · ITBambino Gesù Children's Hospital · ITSapienza University of Rome · ITUniversity of Catania · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils.

Indexed as

Bardet–Biedl syndromeFBN3fibrillinopathiesSNP-arraywhole-exome sequencing

Identifiers

PMID35910214
PMCPMC9334770
OpenAlexW4285589012

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.