Evidence map›Paper›PMID 26583054›Full record

ReviewClinical epigenetics2015

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Thomas Eggermann, Guiomar Perez de Nanclares, Eamonn R Maher, I Karen Temple, Zeynep Tümer, David Monk, Deborah J G Mackay, Karen Grønskov, Andrea Riccio, Agnès Linglart and 1 more

Erratum issuedOpen access · goldAbstract readReview
In one paragraph

Review in Clinical epigenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 109 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 2 pooled it
15.1field-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

109 citing papers in PubMed, 2 syntheses or guidelines pooled it, 210 citations in OpenAlex.

  1. Guideline
  2. Guideline
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  14. Germline variants inProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Article

49 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 8 institutions in 6 countries.

Thomas EggermannDepartment of Human Genetics, RWTH Aachen, Pauwelsstr. 30, Aachen, Germany ; Sorbonne Universites, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France ; 3APHP, Pediatric Endocrinology, Armand Trousseau Hospital, Paris, France.
Guiomar Perez de NanclaresMolecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba, Vitoria-Gasteiz, Spain.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK.
I Karen TempleHuman Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Southampton, UK ; Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK.
Zeynep TümerClinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.
David MonkImprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Hospital Duran i Reynals, Barcelona, Spain.
Deborah J G MackayHuman Genetics and Genomic Medicine, Faculty of Medicine University of Southampton, Southampton, UK ; Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK.
Karen GrønskovClinical Genetic Clinic, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, Denmark.
Andrea RiccioDiSTABiF, Seconda Università degli Studi di Napoli, Caserta, Italy.
Agnès LinglartInstitute of Genetics and Biophysics-ABT, CNR, Napoli, Italy.
Irène NetchineEndocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.
Copenhagen University Hospital · DKPrincess Anne Hospital · GBHospital Universitario Araba · ESInserm · FRInstitut d'Investigació Biomédica de Bellvitge · ESInstitute of Genetics and Biophysics · ITSorbonne Université · FRUniversity of Cambridge · GB

Funding

Department of Health PB-PG-1111-26003Medical Research Council MR/J000329/1
6 · The paper itself

Abstract

Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families.

Indexed as

EpimutationImprinted genesImprinting disordersUniparental disomy

Identifiers

PMID26583054
PMCPMC4650860
OpenAlexW2173045156

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.