Evidence map›Paper›PMID 28663792›Full record

ReviewF1000Research2017

Recent advances in congenital heart disease genomics.

Anna Wilsdon, Alejandro Sifrim, Marc-Phillip Hitz, Matthew Hurles, J David Brook

Abstract readReview
In one paragraph

Review in F1000Research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

5 authors.

Anna WilsdonSchool of Life Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK.
Alejandro SifrimWellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.
Marc-Phillip HitzWellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.
Matthew HurlesWellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK.
J David BrookSchool of Life Sciences, University of Nottingham, University Park, Nottingham, NG7 2RD, UK.

Funding

British Heart Foundation FS/14/51/30879British Heart Foundation RG/13/10/30376Wellcome Trust
6 · The paper itself

Abstract

Congenital heart disease is the most common congenital abnormality, and advances in medical care mean that this population of individuals is surviving for longer than ever before. It represents a significant healthcare challenge, as many patients require life-long care and individuals may ask about the likelihood of their children being affected. Whilst a number of genes have been identified previously from investigation of families with Mendelian inheritance patterns, sequencing the DNA from large cohorts of individuals with congenital heart disease is now providing fresh insights into the genetics of these conditions. This research has enabled novel gene discovery and uncovered the different genetic mechanisms underlying both isolated congenital heart disease and that which occurs in association with other medical problems. This article discusses the most recent advances in this field and the implications for patient care. In addition, we consider the challenges facing researchers in this field and emphasise the need for close working relationships between clinicians and researchers.

Indexed as

congenital heart diseasede novo mutationsgenomics

Identifiers

PMID28663792
PMCPMC5473412

What OpenQuestion holds

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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.