Evidence map›Paper›PMID 36553625›Full record

ArticleGenes2022

Congenital Defects in a Patient Carrying a Novel Homozygous

Niccolò Di Giosaffatte, Alessandro Ferraris, Federica Gaudioso, Valentina Lodato, Emanuele Savino, Claudia Celletti, Filippo Camerota, Simone Bargiacchi, Luigi Laino, Silvia Majore and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Case report: further delineation ofFrontiers in genetics · 2023
    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

12 authors at 2 institutions in 1 country.

Niccolò Di GiosaffatteLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Alessandro FerrarisLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.ORCID 0000-0003-2947-9572
Federica GaudiosoLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Valentina LodatoLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Emanuele SavinoLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Claudia CellettiPhysical Medicine and Rehabilitation Division, Umberto I University Hospital of Rome, 00161 Rome, Italy.ORCID 0000-0001-7154-5882
Filippo CamerotaPhysical Medicine and Rehabilitation Division, Umberto I University Hospital of Rome, 00161 Rome, Italy.
Simone BargiacchiLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.ORCID 0000-0001-5276-7500
Luigi LainoLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Silvia MajoreLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Irene BottilloLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.ORCID 0000-0003-0396-7981
Paola GrammaticoLaboratory of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
Carlo Forlanini Hospital · ITPoliclinico Umberto I · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In 2018, a new clinical subtype, caused by biallelic variants in the

Indexed as

Ehlers-Danlos SyndromeCarboxypeptidasesExtracellular MatrixHomozygoteHumansMutationPhenotypeRepressor ProteinsAEBP1 protein, humanCarboxypeptidasesRepressor ProteinsACLPAEBP1amniotic band sequenceclEDS2cleft palateEhlers–Danlos Syndromemultiple congenital anomaliesPoland anomalyTGF-β pathway

Identifiers

PMID36553625
PMCPMC9777638
OpenAlexW4311393376

What OpenQuestion holds

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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.