Evidence map›Paper›PMID 39544688›Full record

ArticleJIMD reports2024

The phenotypic spectrum of

Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T Achleitner, Hanan AlQudairy, Sander Pajusalu and 3 more

Abstract read
In one paragraph

Article in JIMD reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. The phenotypic spectrum ofJIMD reports · 2024
    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

13 authors.

Baiba LaceRiga East Clinical University Hospital Riga Latvia.ORCID https://orcid.org/0000-0001-5371-6756
Eissa FaqeihSection of Medical Genetics Children's Specialist Hospital, King Fahad Medical City Riyadh Saudi Arabia.
Namik KayaTranslational Genomics Department MBC: 26, Centre for Genomic Medicine Riyadh Saudi Arabia.
Zita KruminaDepartment of Biology and Microbiology Riga Stradiņš University Riga Latvia.
Johannes A MayrUniversity Children's Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg Salzburg Austria.
Ieva MiculeDepartment of Medical Genetics and Prenatal Diagnostics Children's University Hospital Riga Latvia.
Nathan Thompson WrightDepartment of Chemistry and Biochemistry James Madison University Harrisonburg Virginia USA.
Melanie T AchleitnerUniversity Children's Hospital, Laboratory Salzburger Landeskliniken Universitaetsklinikum of the Paracelsus Medical University Salzburg Salzburg Austria.
Hanan AlQudairyTranslational Genomics Department MBC: 26, Centre for Genomic Medicine Riyadh Saudi Arabia.
Sander PajusaluDepartment of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia.
Janis StavusisLatvian Biomedical Research and Study Centre Riga Latvia.
Pawel ZayakinLatvian Biomedical Research and Study Centre Riga Latvia.
Inna InashkinaLatvian Biomedical Research and Study Centre Riga Latvia.

Funding

Exploration of Novel Strategies to Preserve Desmoplakin Variant FunctionR15GM148890 · NIGMS · JAMES MADISON UNIVERSITY · PI WRIGHT, NATHAN THOMPSON · 2022 to 2024
$528k
NIGMS NIH HHS R15 GM148890
6 · The paper itself

Abstract

The

Indexed as

Leigh‐like syndromepentatricopeptide repeatPTCD3

Identifiers

PMID39544688
PMCPMC11558465

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.