ArticleGenes2022
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
Yanireth Jimenez, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-Son, Gabriela M Repetto, Marcelo Rojas, Juan F Calderon
Open access · goldAbstract read
In one paragraphArticle in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.9field-weighted citation impact, top 23% of its field
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed, 5 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
9 authors at 3 institutions in 1 country.
Yanireth JimenezDoctorado en Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile.
Cesar PaulsenServicio de Cirugía Cardiovascular, Instituto Nacional del Tórax, Santiago 7500808, Chile.
Eduardo TurnerServicio de Cirugía Cardiovascular, Instituto Nacional del Tórax, Santiago 7500808, Chile.
Sebastian IturraServicio de Cirugía Cardiovascular, Instituto Nacional del Tórax, Santiago 7500808, Chile.
Oscar CuevasServicio de Cirugía Cardiovascular, Instituto Nacional del Tórax, Santiago 7500808, Chile.
Guillermo Lay-SonUnidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago 8331150, Chile.
Gabriela M RepettoPrograma de Enfermedades Poco Frecuentes, Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile.ORCID 0000-0003-0120-5684 Marcelo RojasDoctorado en Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile.ORCID 0000-0003-1464-2277 Juan F CalderonCentro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 8320000, Chile.ORCID 0000-0003-2072-704X Universidad del Desarrollo · CLInstituto Nacional del Tórax · CLPontificia Universidad Católica de Chile · CL
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (
Indexed as
Marfan SyndromeExomeFibrillin-1HumansMutationPhenotypeFibrillin-1aortic aneurysmexome sequencinggenetic modifiersMarfan syndrome
Identifiers
PMID35741789
PMCPMC9223058
OpenAlexW4281932331
What OpenQuestion holds
Textmetadata
LicenceCC BY
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