Evidence map›Paper›PMID 39409197›Full record

ArticleInternational journal of molecular sciences2024

Compound Heterozygous

Sören Janßen, Leoni S Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P Lubieniecki, Joanna M Lubieniecka, Wanda M Gerding, Nicolas Casadei, Anne-Katrin Güttsches and 5 more

Abstract readCase ReportsComparative Study
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. 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

15 authors.

Sören JanßenDepartment of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Leoni S ErbeDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Moritz KneifelDepartment of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Matthias VorgerdDepartment of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.ORCID 0000-0002-1782-4642
Kristina DöringDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Krzysztof P LubienieckiDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Joanna M LubienieckaDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
Wanda M GerdingDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.ORCID 0000-0002-3858-9872
Nicolas CasadeiInstitute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.ORCID 0000-0003-2209-0580
Anne-Katrin GüttschesDepartment of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.ORCID 0000-0002-4017-940X
Christoph HeyerInstitute for Pediatric Radiology, Katholisches Klinikum Bochum, Ruhr-University Bochum, 44791 Bochum, Germany.
Thomas LückeDepartment of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Hoa Huu Phuc NguyenDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.ORCID 0000-0001-6139-788X
Cornelia KöhlerDepartment of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Sabine HoffjanDepartment of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Funding

Deutsche ForschungsgemeinschaftDr. Georg E. und Marianne Kosing-Stiftung no number
6 · The paper itself

Abstract

Pathogenic variants in the ryanodine receptor 1 (

Indexed as

HeterozygoteRyanodine Receptor Calcium Release ChannelChildFemaleGenes, RecessiveGenetic Association StudiesHumansMaleMuscular DiseasesMutationMyotonia CongenitaPedigreePhenotypeRyanodine Receptor Calcium Release ChannelRYR1 protein, humancongenital myopathyryanodine receptor 1 (RYR1)RYR1-related myopathiessplice variantwhole genome sequencing (WGS)

Identifiers

PMID39409197
PMCPMC11477233

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.