Evidence map›Paper›PMID 38136988›Full record

ArticleGenes2023

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Anja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

7 authors at 2 institutions in 1 country.

Anja KovandaClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.ORCID 0000-0002-7468-878X
Luca LovrečićClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.
Gorazd RudolfClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.
Ivana Babic BozovicClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.
Helena JakličClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.
Lea LeonardisFaculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Borut PeterlinClinical Institute of Genomic Medicine, University Medical Center, 1000 Ljubljana, Slovenia.
University of Ljubljana · SILjubljana University Medical Centre · SI

Funding

Slovenian Research Agency P3-0326University Medical Centre Ljubljana (UMCL) 20210031
6 · The paper itself

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the

Indexed as

Muscular Dystrophy, FacioscapulohumeralChromosomal Proteins, Non-HistoneChromosome MappingGenetic TestingHomeodomain ProteinsHumansChromosomal Proteins, Non-HistoneHomeodomain ProteinsSMCHD1 protein, humanfacioscapulohumeral muscular dystrophyFSHD1FSHD2OGMoptical genome mapping

Identifiers

PMID38136988
PMCPMC10743191
OpenAlexW4389206207

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.