Evidence map›Paper›PMID 33187088›Full record

ArticleGenes2020

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.

Simone M Gelinas, Clare E Benson, Mohammed A Khan, Rolf M F Berger, Richard C Trembath, Rajiv D Machado, Laura Southgate

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.6field-weighted citation impact, top 13% 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

14 citing papers in PubMed, 20 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  6. Review
  7. Article
  8. Article
  9. Biallelic variants ofJournal of medical genetics · 2022
    Article
  10. Molecular genetics of pulmonary hypertension in children.Current opinion in genetics & development · 2022
    Review
  11. Review
  12. Article
  13. Article
  14. 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

7 authors at 3 institutions in 2 countries.

Simone M GelinasGenetics Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London SW17 0RE, UK.
Clare E BensonGenetics Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London SW17 0RE, UK.ORCID 0000-0002-3031-6896
Mohammed A KhanGenetics Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London SW17 0RE, UK.
Rolf M F BergerCenter for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Richard C TrembathDepartment of Medical & Molecular Genetics, Faculty of Life Sciences & Medicine, King's College London, London SE1 9RT, UK.
Rajiv D MachadoGenetics Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London SW17 0RE, UK.
Laura SouthgateGenetics Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London SW17 0RE, UK.ORCID 0000-0002-2090-1450
St George's, University of London · GBKing's College London · GBUniversity Medical Center Groningen · NL

Funding

British Heart Foundation RG/08/006/25302Wellcome Trust 204809/Z/16/Z
6 · The paper itself

Abstract

Pulmonary arterial hypertension (PAH) describes a rare, progressive vascular disease caused by the obstruction of pulmonary arterioles, typically resulting in right heart failure. Whilst PAH most often manifests in adulthood, paediatric disease is considered to be a distinct entity with increased morbidity and often an unexplained resistance to current therapies. Recent genetic studies have substantially increased our understanding of PAH pathogenesis, providing opportunities for molecular diagnosis and presymptomatic genetic testing in families. However, the genetic architecture of childhood-onset PAH remains relatively poorly characterised. We sought to investigate a previously unsolved paediatric cohort (

Indexed as

Adenosine TriphosphatasesBone Morphogenetic ProteinsChildChild, PreschoolCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseHumansInfantLymphokinesMaleMembrane Transport ProteinsMutationPlatelet-Derived Growth FactorPulmonary Arterial HypertensionABCC8 protein, humanAdenosine TriphosphatasesATP13A3 protein, humanBMP10 protein, humanBone Morphogenetic ProteinsLymphokinesMembrane Transport ProteinsPDGFD protein, humanPlatelet-Derived Growth FactorSmad8 ProteinSMAD9 protein, humanSulfonylurea Receptorsexome sequencinglung diseasemolecular geneticspaediatricspulmonary arterial hypertension

Identifiers

PMID33187088
PMCPMC7696319
OpenAlexW3105237821

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.