The new era of whole-exome sequencing in congenital heart disease: brand-new insights into rare pathogenic variants.

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.

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.

Who cites it

11 citing papers in PubMed.

1. The Congenital Heart Disease in Children: Kidney-Associated Conditions with Epidemiologic Endpoints (CHICKADEE) study: Study design and protocol.PloS one · 2026
   Article
2. The Use of Next-Generation Sequencing in Personalized Medicine.Methods in molecular biology (Clifton, N.J.) · 2025
   Review
3. The use of next-generation sequencing in personalized medicine.ArXiv · 2024
   Article
4. Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.Frontiers in cardiovascular medicine · 2023
   Article
5. Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2022
   Article
6. Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.Journal of personalized medicine · 2021
   Article
7. Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease.Genes · 2020
   Review
8. Novel insights into the genetic landscape of congenital heart disease with systems genetics.Progress in pediatric cardiology · 2019
   Article
9. Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins.Journal of molecular and cellular cardiology · 2019
   Review
10. Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 1: Pluridisciplinary perspective on their hemodynamics and morphomechanics.Journal of molecular and cellular cardiology · 2019
    Article
11. Morphomechanic phenotypic variability of sarcomeric cardiomyopathies: A multifactorial polygenic perspective.Journal of molecular and cellular cardiology · 2019
    Review

Corrections and comments

• Comment on
  Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.2017

Authors and funding

1 author.

Funding

Abstract

PubMed holds no abstract for this paper.