Evidence map›Paper›PMID 35345810›Full record

ArticleHGG advances2022

Maternal effect genes as risk factors for congenital heart defects.

Fadi I Musfee, Omobola O Oluwafemi, A J Agopian, Hakon Hakonarson, Elizabeth Goldmuntz, Laura E Mitchell

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2022. 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
0.9field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Genetics of female and male infertility.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024
    Article
  3. 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

6 authors at 3 institutions in 1 country.

Fadi I MusfeeDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, 1200 Pressler Street, Houston, TX 77030, USA.
Omobola O OluwafemiDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, 1200 Pressler Street, Houston, TX 77030, USA.
A J AgopianDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, 1200 Pressler Street, Houston, TX 77030, USA.
Hakon HakonarsonDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Elizabeth GoldmuntzDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Laura E MitchellDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, 1200 Pressler Street, Houston, TX 77030, USA.
University of Texas Health Science Center at Dallas · USChildren's Hospital of Philadelphia · USUniversity of Pennsylvania · US

Funding

Maternal Genes that Control Early Embryonic Development as Risk Factors for Congenital Heart DefectsR21HD097347 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MITCHELL, LAURA E. · 2019 to 2020
$450k
NICHD NIH HHS R21 HD097347
6 · The paper itself

Abstract

Maternal effect genes (MEGs) encode factors (e.g., RNA) in the oocyte that control embryonic development prior to activation of the embryonic genome. Over 80 mammalian MEGs have been identified, including several that have been associated with phenotypes in humans. Maternal variation in MEGs is associated with a range of adverse outcomes, which, in humans, include hydatidiform moles, zygotic cleavage failure, and offspring with multi-locus imprinting disorders. In addition, data from both animal models and humans suggest that the MEGs may be associated with structural birth defects such as congenital heart defects (CHDs). To further investigate the association between MEGs and CHDs, we conducted gene-level and gene-set analyses of known mammalian MEGs (n = 82) and two common groups of CHDs: conotruncal heart defects and left ventricular outflow tract defects. We identified 14 candidate CHD-related MEGs. These 14 MEGs include three (

Indexed as

associationcongenitalgenegene setheartmalformationmaternal effect

Identifiers

PMID35345810
PMCPMC8957044
OpenAlexW4220752500

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.