Evidence map›Paper›PMID 30647469›Full record

ReviewNature reviews. Genetics2019

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

David Monk, Deborah J G Mackay, Thomas Eggermann, Eamonn R Maher, Andrea Riccio

Open access · bronzeAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 232 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
232citing papers in PubMed, 1 pooled it
46.0field-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

232 citing papers in PubMed, 1 synthesis or guideline pooled it, 457 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Severe infantile obesity with a maternalClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026
    Article
  5. Article
  6. Review
  7. Article
  8. Life science alliance · 2026
    Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Epigenetics · 2025
    Article

172 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

5 authors at 5 institutions in 4 countries.

David MonkCancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Deborah J G MackayHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Thomas EggermannInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
Andrea RiccioDepartment of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Napoli, Italy. andrea.riccio@unicampania.it.ORCID http://orcid.org/0000-0001-7990-3576
Institut d'Investigació Biomédica de Bellvitge · ESRWTH Aachen University · DEUniversity of Cambridge · GBUniversity of Campania "Luigi Vanvitelli" · ITUniversity of Southampton · GB

Funding

Medical Research Council MR/J000329/1
6 · The paper itself

Abstract

Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease. Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis-acting elements or trans-acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. Recent insights into the dynamics of the epigenome, including the effect of environmental factors, suggest that the developmental outcomes and heritability of imprinting disorders are influenced by interactions between the genome, the epigenome and the environment in germ cells and early embryos.

Indexed as

DNA MethylationGenome, HumanGenomic ImprintingAnimalsGenetic Diseases, InbornHumans

Identifiers

PMID30647469
OpenAlexW2908571759

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.