Evidence map›Paper›PMID 27565037›Full record

ReviewThe American journal of pathology2016

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

Patricia K Donahoe, Mauro Longoni, Frances A High

Open access · bronzeAbstract readReview
In one paragraph

Review in The American journal of pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
5.3field-weighted citation impact, top 4% 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

37 citing papers in PubMed, 77 citations in OpenAlex.

  1. Article
  2. Echocardiographic predictors of adverse outcomes in infants with congenital diaphragmatic hernia.Journal of perinatology : official journal of the California Perinatal Association · 2026
    Article
  3. Article
  4. Article
  5. Hemodynamic precision to guide surgical timing for neonates with congenital diaphragmatic hernia: a narrative review.Journal of perinatology : official journal of the California Perinatal Association · 2025
    Review
  6. A new hope for pulmonary hypoplasia: amniotic fluid stem cell extracellular vesicles?Extracellular vesicles and circulating nucleic acids · 2025
    Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Molecular insights using spatial transcriptomics of the distal lung in congenital diaphragmatic hernia.American journal of physiology. Lung cellular and molecular physiology · 2023
    Article
  13. Molecular therapy. Nucleic acids · 2023
    Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  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

3 authors at 3 institutions in 1 country.

Patricia K DonahoePediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts; Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts. Electronic address: pdonahoe@partners.org.
Mauro LongoniPediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts.
Frances A HighPediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts; Department of Surgery, Harvard Medical School, Boston, Massachusetts; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts; Department of Surgery, Boston Children's Hospital, Boston, Massachusetts.
Boston Children's Hospital · USBroad Institute · USMassachusetts General Hospital · US

Funding

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
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
NICHD NIH HHS P01 HD068250NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is available in support of a genetic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic defects, rare monogenetic disorders in humans, familial aggregation, and association of CDH with chromosomal abnormalities. Structural lung defects in the form of lung hypoplasia are almost invariably seen in patients with CDH and frequently in animal models of this condition. Better understanding of the mechanisms of pulmonary defects in CDH has the potential for creating targeted therapies, particularly in postnatal stages, when therapeutics can have maximum clinical impact on the surviving cohorts. Successful treatment of CDH is dependent on the integration of human genomic and genetic data with developmental expression profiling, mouse knockouts, and gene network and pathway modeling, which have generated a large number of candidate genes and pathways for follow-up studies. In particular, defective alveolarization appears to be a common and potentially actionable phenotype in both patients and animal models.

Indexed as

Chromosome AberrationsAnimalsDiaphragmDisease Models, AnimalFemaleHernias, Diaphragmatic, CongenitalHumansInfantLungMiceMice, Knockout

Identifiers

PMID27565037
PMCPMC5222980
OpenAlexW2515333543

What OpenQuestion holds

Textmetadata
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.