Evidence map›Paper›PMID 35222550›Full record

ArticleFrontiers in genetics2022

Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.

Muhidien Soufi, Simon Bedenbender, Volker Ruppert, Bilgen Kurt, Bernhard Schieffer, Juergen R Schaefer

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Frontiers in genetics · 2026
    Article
  2. Genewise detection of variants inFrontiers in genetics · 2024
    Article
  3. Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023
    Article
  4. 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

6 authors at 1 institution in 1 country.

Muhidien SoufiCenter for Undiagnosed and Rare Diseases, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Simon BedenbenderCenter for Undiagnosed and Rare Diseases, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Volker RuppertDepartment of Cardiology, Angiology and Critical Care Medicine, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Bilgen KurtDepartment of Cardiology, Angiology and Critical Care Medicine, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Bernhard SchiefferDepartment of Cardiology, Angiology and Critical Care Medicine, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Juergen R SchaeferCenter for Undiagnosed and Rare Diseases, University Hospital Giessen and Marburg and Philipps University Marburg, Marburg, Germany.
Universitätsklinikum Gießen und Marburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant lipid metabolism disorder characterized by severely elevated plasma low-density lipoprotein cholesterol levels. The disease is caused by mutations in 3 genes (

Indexed as

familial hypercholesterolemiagenetic diagnosishereditary diseasesLDL receptorlong amplicon sequencingoxford nanopore sequencingrapid genetic testing

Identifiers

PMID35222550
PMCPMC8864071
OpenAlexW4211191284

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.