Evidence map›Paper›PMID 37052241›Full record

ArticleMolecular medicine reports2023

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Dynkova Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Molecular medicine reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
3.7field-weighted citation impact, top 7% 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

2 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
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 3 institutions in 2 countries.

Marketa WayhelovaDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Vladimira VallovaDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Petr BrozDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Aneta MikulasovaBiosciences Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.
Dominika MachackovaDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Hana Dynkova FilkovaLaboratory of Cytogenomics, Centre of Molecular Biology and Genetics, Department of Internal Medicine, Hematology and Oncology, University Hospital Brno, 62500 Brno, Czech Republic.
Jan SmetanaDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Alena TakacsovaDepartment of Medical Genetics and Genomics, University Hospital Brno, 62500 Brno, Czech Republic.
Renata GaillyovaDepartment of Medical Genetics and Genomics, University Hospital Brno, 62500 Brno, Czech Republic.
Petr KuglikDepartment of Experimental Biology, Faculty of Science, Masaryk University, 61137 Brno, Czech Republic.
Masaryk University · CZUniversity Hospital Brno · CZNewcastle University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants affecting the

Indexed as

Bloom SyndromeChildChromosomes, Human, YExome SequencingFemaleHeterozygoteHumansInfantMaleMosaicismBLM geneBloom syndromecancer‑predisposing syndromecopy‑number neutral loss of heterozygosityexome sequencing

Identifiers

PMID37052241
PMCPMC10119849
OpenAlexW4365144978

What Socratic 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 Socratic graph.