Evidence map›Paper›PMID 28768736›Full record

ReviewDisease models & mechanisms2017

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Gabrielle Kardon, Kate G Ackerman, David J McCulley, Yufeng Shen, Julia Wynn, Linshan Shang, Eric Bogenschutz, Xin Sun, Wendy K Chung

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00950118 (Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science), which is not on this map. Cited by 90 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
90citing papers in PubMed, 1 pooled it
16.9field-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.

NCT00950118 recruitingnot on this map

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science

TypeobservationalSponsorColumbia UniversityRan2005 to 2026Enrolled3,000ConditionsCongenital Diaphragmatic Hernia
3 · Its place in the literature

Who cites it

90 citing papers in PubMed, 1 synthesis or guideline pooled it, 190 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Congenital heart disease and congenital diaphragmatic hernia: the role of intracardiac shunts.Journal of perinatology : official journal of the California Perinatal Association · 2026
    Article
  5. A hemodynamic-driven approach to chronic pulmonary hypertension in congenital diaphragmatic hernia.Journal of perinatology : official journal of the California Perinatal Association · 2026
    Review
  6. Article
  7. Article
  8. Article
  9. Modeling patient variants ofbioRxiv : the preprint server for biology · 2026
    Article
  10. Article
  11. Review
  12. Cardiorespiratory transition in CDH.Seminars in fetal & neonatal medicine · 2025
    Review
  13. Review
  14. Article
  15. Loss ofCurrent issues in molecular biology · 2025
    Article
  16. Mesenchymal retinoic acid signaling is required for normal diaphragm development in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
    Article
  17. Article
  18. Article
  19. Review
  20. Article

30 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

9 authors at 5 institutions in 1 country.

Gabrielle KardonDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA gkardon@genetics.utah.edu wkc15@cumc.columbia.edu.ORCID 0000-0003-2144-4463
Kate G AckermanDepartments of Pediatrics (Critical Care) and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.ORCID 0000-0002-1875-8931
David J McCulleyDepartment of Pediatrics, University of Wisconsin, Madison, WI 53792, USA.
Yufeng ShenDepartment of Systems Biology, Columbia University Medical Center, New York, NY 10032, USA.
Julia WynnDepartments of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
Linshan ShangDepartments of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
Eric BogenschutzDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Xin SunDepartment of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA.
Wendy K ChungDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA gkardon@genetics.utah.edu wkc15@cumc.columbia.edu.ORCID 0000-0003-3438-5685
Columbia University Irving Medical Center · USUniversity of Utah · USUniversity of California San Diego · USUniversity of Rochester Medical Center · USUniversity of Wisconsin–Madison · US

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0M
Institutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2M
THE DROSOPHILA GENETICS AND RNAI CORE (THE FLY CORE)P01HD068250 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI CHUNG, WENDY K, DONAHOE, PATRICIA K · 2011 to 2022
$17.1M
Institutional Clinical and Translational Science AwardKL2TR000428 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$6.2M
TRAINING PROGRAM IN GENETICST32GM007464 · NIGMS · UNIVERSITY OF UTAH · PI GRUNWALD, DAVID J., STANFIELD, GILLIAN · 1985 to 2020
$6.1M
Identification of Novel Genes for Congenital Diaphragmatic HerniaR01HD057036 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ASPELUND, GUDRUN, CHUNG, WENDY K · 2008 to 2012
$2.8M
FGF Signaling in Lung Maturation and Response to InjuryR01HL113870 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI SUN, XIN · 2012 to 2016
$2.1M
Cartilage and Smooth Muscle in Airway Tone and MicroenvironmentR01HL119946 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI SUN, XIN · 2014 to 2017
$2.1M
Respiratory Deficiencies in Congenital Diaphragmatic HerniaR01HL122406 · NHLBI · UNIVERSITY OF WISCONSIN-MADISON · PI SUN, XIN · 2015 to 2018
$1.8M
Transcription Factor Analysis in a Congenital Diaphragmatic Hernia ModelR01HL085459 · NHLBI · UNIVERSITY OF ROCHESTER · PI ACKERMAN, KATE G. · 2009 to 2014
$1.7M
Development of the Diaphragm and Congenital Diaphragmatic Hernias (CDH)R01HD087360 · NICHD · UNIVERSITY OF UTAH · PI KARDON, GABRIELLE · 2016 to 2020
$1.6M
NCATS NIH HHS KL2 TR000428NCATS NIH HHS UL1 TR000427NCRR NIH HHS UL1 RR024156NHLBI NIH HHS R01 HL085459NHLBI NIH HHS R01 HL113870NHLBI NIH HHS R01 HL119946NHLBI NIH HHS R01 HL122406NICHD NIH HHS P01 HD068250NICHD NIH HHS R01 HD057036NICHD NIH HHS R01 HD087360NIGMS NIH HHS T32 GM007464
6 · The paper itself

Abstract

Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as

Indexed as

Genetic Predisposition to DiseaseAnimalsDiaphragmDisease Models, AnimalHernias, Diaphragmatic, CongenitalHumansCongenital diaphragmatic hernia (CDH)Congenital heart disease (CHD)DiaphragmGeneticsPulmonary hypertensionPulmonary hypoplasiaStructural birth defects

Identifiers

PMID28768736
PMCPMC5560060
OpenAlexW2741205354

What OpenQuestion holds

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Registered trials

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.