Evidence map›Paper›PMID 24793338›Full record

ReviewEuropean journal of medical genetics2014

Genetic basis of congenital cardiovascular malformations.

Seema R Lalani, John W Belmont

Abstract readReview
In one paragraph

Review in European journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.

0numbers the graph read from it
0cells of the map it votes in
44citing 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

44 citing papers in PubMed.

  1. Observational
  2. Review
  3. Review
  4. Article
  5. Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024
    Article
  6. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023
    Article
  7. Article
  8. Article
  9. Genes · 2023
    Article
  10. Review
  11. Review
  12. Integrative modeling of transmitted andQuantitative biology (Beijing, China) · 2021
    Article
  13. Review
  14. Article
  15. Article
  16. The developing heart: fromDevelopment (Cambridge, England) · 2020
    Review
  17. Article
  18. Review
  19. Article
  20. 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

2 authors.

Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: seemal@bcm.tmc.edu.
John W BelmontDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Funding

Novel Genomic Disorders Causing Cardiovascular MalformationsR01HL091771 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2008 to 2011
$1.5M
NHLBI NIH HHS R01 HL091771NHLBI NIH HHS R01-HL091771
6 · The paper itself

Abstract

Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction proteins- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase susceptibility to congenital heart defects.

Indexed as

AnimalsCardiovascular AbnormalitiesHumansCardiac developmentChromosomal and single gene disordersCongenital heart defectGenomic disorder

Identifiers

PMID24793338
PMCPMC4152939

What OpenQuestion holds

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Registered trials

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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.