Evidence map›Paper›PMID 28302740›Full record

ReviewCirculation research2017

Genetics and Genomics of Congenital Heart Disease.

Samir Zaidi, Martina Brueckner

Open access · bronzeAbstract readReview
In one paragraph

Review in Circulation research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 306 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
306citing papers in PubMed, 4 pooled it
16.2field-weighted citation impact, top 1% 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

306 citing papers in PubMed, 4 syntheses or guidelines pooled it, 572 citations in OpenAlex.

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  14. Brain volumes in fetuses with congenital heart disease and placental vascular abnormalities.Journal of perinatology : official journal of the California Perinatal Association · 2026
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246 more citing papers are in PubMed but not listed here.

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 at 1 institution in 1 country.

Samir ZaidiFrom the Departments of Genetics (S.Z.) and Pediatrics and Genetics (M.B.), Yale University School of Medicine, New Haven CT.
Martina BruecknerFrom the Departments of Genetics (S.Z.) and Pediatrics and Genetics (M.B.), Yale University School of Medicine, New Haven CT. martina.brueckner@yale.edu.
Yale University · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7M
Genetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9M
The Genomic Basis of Congenital Heart Disease and Neurodevelopmental OutcomesUM1HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2015 to 2019
$2.4M
Intraciliary calcium directs cardiac left-right asymmetryR01HL125885 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, SUN, ZHAOXIA · 2015 to 2018
$2.3M
Genetics and genomics of congenital heart disease and associated neurodevelopmental abnormalitiesUM1HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GUPTA, ABHA RANI · 2015 to 2019
$2.2M
NHLBI NIH HHS R01 HL125885NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098162NHLBI NIH HHS UM1 HL098147NHLBI NIH HHS UM1 HL098162NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

Congenital heart disease is the most common birth defect, and because of major advances in medical and surgical management, there are now more adults living with congenital heart disease (CHD) than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic causes of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development and affect clinical care of patients with CHD. Finally, we address clinical genetic evaluation of patients and families affected by CHD.

Indexed as

AneuploidyGenetic Predisposition to DiseaseMutationGenome, HumanHeart Defects, CongenitalHumansgeneticsgenomehumanlifetechnology

Identifiers

PMID28302740
PMCPMC5557504
OpenAlexW2597263729

What OpenQuestion holds

Textmetadata
LicenceTDM
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.