Evidence map›Paper›PMID 35047854›Full record

ReviewHGG advances2022

Maternal effect genes: Update and review of evidence for a link with birth defects.

Laura E Mitchell

Open access · goldAbstract readReview
In one paragraph

Review in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
13.7field-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

46 citing papers in PubMed, 57 citations in OpenAlex.

  1. Transcriptomic Dynamics Associated With In Vitro Oocyte Competence in Pigs.Reproduction in domestic animals = Zuchthygiene · 2026
    Article
  2. Review
  3. Observational
  4. Article
  5. Bridging maternal effects and epitranscriptomics: A novel perspective in developmental biology.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Review
  19. The Genetics of Female and Male Infertility.Deutsches Arzteblatt international · 2025
    Review
  20. 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

1 author at 1 institution in 1 country.

Laura E MitchellUTHealth School of Public Health, Department of Epidemiology, Human Genetics and Environmental Sciences, Houston, TX, USA.
The University of Texas Health Science Center at Houston · 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
The Maternal Genome and Risk of Structural Birth DefectsR03HD098552 · NICHD · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI JUN, GOO · 2019 to 2020
$296k
NICHD NIH HHS R03 HD098552NICHD NIH HHS R21 HD097347
6 · The paper itself

Abstract

Maternal effect genes (MEGs) encode factors (e.g., RNA) that are present in the oocyte and required for early embryonic development. Hence, while these genes and gene products are of maternal origin, their phenotypic consequences result from effects on the embryo. The first mammalian MEGs were identified in the mouse in 2000 and were associated with early embryonic loss in the offspring of homozygous null females. In humans, the first MEG was identified in 2006, in women who had experienced a range of adverse reproductive outcomes, including hydatidiform moles, spontaneous abortions, and stillbirths. Over 80 mammalian MEGs have subsequently been identified, including several that have been associated with phenotypes in humans. In general, pathogenic variants in MEGs or the absence of MEG products are associated with a spectrum of adverse outcomes, which in humans range from zygotic cleavage failure to offspring with multi-locus imprinting disorders. Although less established, there is also evidence that MEGs are associated with structural birth defects (e.g., craniofacial malformations, congenital heart defects). This review provides an updated summary of mammalian MEGs reported in the literature through early 2021, as well as an overview of the evidence for a link between MEGs and structural birth defects.

Indexed as

developmentembryogenehumanmalformationmaternalmousereproduction

Identifiers

PMID35047854
PMCPMC8756509
OpenAlexW3206206977

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.