Evidence map›Paper›PMID 35008485›Full record

ArticleInternational journal of molecular sciences2021

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (

Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos

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

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 30% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Review
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.

Ana GonçalvesUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.
Ana FortunaUnidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.
Yavuz AriyurekLeiden Genome Technology Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Márcia E OliveiraUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0003-2437-2004
Goreti NadaisServiço de Neurologia, Centro Hospitalar de São João, 4200-319 Porto, Portugal.
Jorge PinheiroServiço de Anatomia Patológica, Centro Hospitalar de São João, 4200-319 Porto, Portugal.
Johan T den DunnenLeiden Genome Technology Center, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Mário SousaUnidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS) e Laboratório Para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Universidade do Porto, 4050-313 Porto, Portugal.ORCID 0000-0002-3009-3290
Jorge OliveiraUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0003-3924-6385
Rosário SantosUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0002-8594-6377
Universidade do Porto · PTHospital de São João · PTLeiden University Medical Center · NL

Funding

Fundo para a Investigação e Desenvolvimento do Centro Hospitalar do Porto 336-13(196-DEFI/285-CES
6 · The paper itself

Abstract

While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this work, we present a Becker Muscular Dystrophy patient with elevated creatinine kinase levels, progressive muscle weakness, mild intellectual disability and a muscle biopsy showing dystrophic features and irregular dystrophin labelling. Routine molecular techniques (Southern-blot analysis, multiplex PCR, MLPA and genomic DNA sequencing) failed to detect a defect in the

Indexed as

AdultBase SequenceDystrophinExonsGeneticsGenomeHumansMaleMuscular Dystrophy, DuchenneWhole Genome SequencingYoung AdultDystrophinDMDdystrophinopathiesinversionwhole genome sequencing (WGS)

Identifiers

PMID35008485
PMCPMC8744749
OpenAlexW4200171394

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.