Evidence map›Paper›PMID 35318247›Full record

ArticleJournal of medical genetics2022

A polymorphic AT-repeat causes frequent allele dropout for an

Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Helle HøyerDepartment of Medical Genetics, Telemark Hospital, Skien, Norway helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.ORCID 0000-0002-5445-0520
Hilde T HilmarsenDepartment of Medical Genetics, Telemark Hospital, Skien, Norway.
Raute Sunder-PlassmannDepartment of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
Geir J BraathenDepartment of Medical Genetics, Telemark Hospital, Skien, Norway.
Peter M AndersenDepartment of Clinical Sciences, Norrlands universitetssjukhus, Umeå, Sweden.
Christian BeetzCentogene AG, Rostock, Germany.ORCID 0000-0001-7061-2895
Sandra HackerDepartment of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
Øystein L HollaDepartment of Medical Genetics, Telemark Hospital, Skien, Norway.ORCID 0000-0002-7697-857X
Ingo KurthInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Wolfgang N LöscherDepartment of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Simone B C F ReiterDepartment of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Sabine Rudnik-SchönebornInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Linda StrandDepartment of Medical Genetics, Telemark Hospital, Skien, Norway.
Reinhard WindhagerDepartment of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria.
Martina Witsch-BaumgartnerInstitute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Jan SenderekFriedrich Baur Institute, Department of Neurology, Ludwig-Maximilians-Universität München Medizinische Fakultät, Munich, Germany.
Michaela Auer-GrumbachDepartment of Orthopaedics and Trauma Surgery, Medical University of Vienna, Vienna, Austria helle.hoyer@sthf.no michaela.auer-grumbach@meduniwien.ac.at.

Funding

Austrian Science Fund FWF I 4699
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AllelesEndrinExonsGene FrequencyHumansMutationEndrinMMEallelic imbalanceDNA repeat expansionhuman geneticsneuromuscular diseasessequence analysis, DNA

Identifiers

PMID35318247
PMCPMC9554250

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.