Evidence map›Paper›PMID 39063034›Full record

ArticleInternational journal of molecular sciences2024

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.

Alba Segarra-Casas, Vicente A Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo and 2 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Balanced Translocations Involving theInternational journal of molecular sciences · 2025
    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.

Alba Segarra-CasasJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0001-5185-5031
Vicente A YépezSchool of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.ORCID 0000-0001-7916-3643
German DemidovUniversitätsklinikum Tübingen-Institut für Medizinische Genetik und angewandte Genomik, 72076 Tübingen, Germany.
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Anna Esteve-CodinaCentro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.
Julien GagneurSchool of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany.ORCID 0000-0002-8924-8365
Yolande ParkhurstMuscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK.
Robert Muni-LofraJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0002-8901-9140
Elizabeth HarrisJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Chiara Marini-BettoloJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0001-9046-3540
Ana TöpfJohn Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0009-0003-6050-8519

Funding

Deutsche Forschungsgemeinschaft NFDI 1/1 "GHGA - German Human Genome-Phenome Archive" (#441914366)European Union's Horizon 2020 research and innovation programme 779257 (Solve-RD)Ministerio de Universidades - Gobierno de España EST23/00463Ministerio de Universidades - Gobierno de España FPU20/06692
6 · The paper itself

Abstract

Duchenne and Becker muscular dystrophies, caused by pathogenic variants in

Indexed as

Chromosomes, Human, XDystrophinGenomicsMuscular Dystrophy, DuchenneTranslocation, GeneticChromosomes, Human, Pair 17DNA Copy Number VariationsExome SequencingFemaleHumansTranscriptomeDMD protein, humanDystrophinDMDDuchenne muscular dystrophyfemale carriergenetic diagnosisRNA sequencingtranslocationwhole genome sequencing

Identifiers

PMID39063034
PMCPMC11276803

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.