Evidence map›Paper›PMID 31164682›Full record

ArticleScientific reports2019

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.

Maike Leferink, Daphne P W Wong, Shiwei Cai, Minli Yeo, Jocelin Ho, Mulias Lian, Erik-Jan Kamsteeg, Samuel S Chong, Lonneke Haer-Wigman, Ming Guan

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 40% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2024
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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

10 authors at 3 institutions in 2 countries.

Maike LeferinkDepartment of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Daphne P W WongThe BioFactory Pte Ltd, Singapore, Republic of Singapore.
Shiwei CaiThe BioFactory Pte Ltd, Singapore, Republic of Singapore.
Minli YeoThe BioFactory Pte Ltd, Singapore, Republic of Singapore.
Jocelin HoThe BioFactory Pte Ltd, Singapore, Republic of Singapore.
Mulias LianKhoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Republic of Singapore.
Erik-Jan KamsteegDepartment of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Samuel S ChongKhoo Teck Puat - National University Children's Medical Institute, National University Health System, Singapore, Republic of Singapore.
Lonneke Haer-WigmanDepartment of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. Lonneke.Haer-Wigman@radboudumc.nl.
Ming GuanThe BioFactory Pte Ltd, Singapore, Republic of Singapore.
Radboud University Nijmegen · NLNational University Health System · SGNational University Hospital · SG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonic dystrophy type 1 is a multisystem disorder caused by the expansion of a trinucleotide repeat in the DMPK gene. In this study we evaluated the performance of the FastDM1

Indexed as

GenotypeHumansMyotonic DystrophyMyotonin-Protein KinasePolymerase Chain ReactionTrinucleotide Repeat ExpansionTrinucleotide RepeatsDMPK protein, humanMyotonin-Protein Kinase

Identifiers

PMID31164682
PMCPMC6547747
OpenAlexW2948513810

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.